Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Effect: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA): Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
RNA change: Description of variant at RNA level (following HGVS recommendations).
- r.123c>u
- r.? = unknown
- r.(?) = RNA not analysed but probably transcribed copy of DNA variant
- r.spl? = RNA not analysed but variant probably affects splicing
- r.(spl?) = RNA not analysed but variant may affect splicing
- r.0? = change expected to abolish transcription
Protein: Description of variant at protein level (following HGVS recommendations).
- p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
- p.Arg345Pro = change derived from RNA analysis
- p.? = unknown effect
- p.0? = probably no protein produced
Variant/VariO/DNA: VariO of DNA
Variant/VariO/protein: VariO of protein
Allele: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
DNA change (genomic) (hg19): Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).
- g.12345678C>T
- g.12345678_12345890del
- g.12345678_12345890dup
Reference: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".
DB-ID: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.
Frequency: Frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested).
Template: Template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA).
All options:
- DNA
- RNA = RNA (cDNA)
- Protein
- ? = unknown
Technique: Technique(s) used to identify the sequence variant.
All options:
- ? = Unknown
- arrayCGH = array for Comparative Genomic Hybridisation
- arraySEQ = array for resequencing
- arraySNP = array for SNP typing
- arrayCNV = array for Copy Number Variation (SNP and CNV probes)
- BESS = Base Excision Sequence Scanning
- CMC = Chemical Mismatch Cleavage
- CSCE = Conformation Sensitive Capillary Electrophoresis
- DGGE = Denaturing-Gradient Gel-Electrophoresis
- DHPLC = Denaturing High-Performance Liquid Chromatography
- DOVAM = Detection Of Virtually All Mutations (SSCA variant)
- ddF = dideoxy Fingerprinting
- DSCA = Double-Strand DNA Conformation Analysis
- EMC = Enzymatic Mismatch Cleavage
- HD = HeteroDuplex analysis
- MCA = high-resolution Melting Curve Analysis (hrMCA)
- IHC = Immuno-Histo-Chemistry
- MAPH = Multiplex Amplifiable Probe Hybridisation
- MLPA = Multiplex Ligation-dependent Probe Amplification
- SEQ-NG = Next-Generation Sequencing
- SEQ-NG-H = Next-Generation Sequencing - Helicos
- SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
- SEQ-NG-R = Next-Generation Sequencing - Roche/454
- SEQ-NG-S = Next-Generation Sequencing - SOLiD
- Northern = Northern blotting
- PCR = Polymerase Chain Reaction
- PCRdig = PCR + restriction enzyme digestion
- PCRlr = PCR, long-range
- PCRm = PCR, multiplex
- PCRq = PCR, quantitative
- PAGE = Poly-Acrylamide Gel-Electrophoresis
- PTT = Protein Truncation Test
- PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
- RT-PCR = Reverse Transcription and PCR
- SEQ = SEQuencing
- SBE = Single Base Extension
- SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
- SSCAf = SSCA, fluorescent (SSCP)
- Southern = Southern blotting
- TaqMan = TaqMan assay
- Western = Western Blotting
Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Ethnic origin: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
Remarks: Remarks about the individual.
Effect
|
Exon
|
DNA change (cDNA)
|
RNA change
|
Protein
|
Variant/VariO/DNA
|
Variant/VariO/protein
|
Allele
|
DNA change (genomic) (hg19)
|
Reference
|
DB-ID
|
Frequency
|
Template
|
Technique
|
Disease
|
Reference
|
Ethnic origin
|
Remarks
|
Panel size
|
Owner
|
./. |
1 |
c.1A>C |
r.? |
p.Met1Leu |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
Unknown |
g.28503080T>G |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
CLN3_000046 |
- |
? |
? |
NCL |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
The Netherlands |
- |
1 |
Y Yang |
./. |
2 |
c.49G>T |
r.(?) |
p.(Glu17*) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0015 protein truncation |
Unknown |
g.28502879C>A |
Kwon et al. Neurosci Lett 387: 111-4-114 2005 |
CLN3_000001 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
2 |
c.105G>A |
r.(?) |
p.(Trp35*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0015 protein truncation |
Unknown |
g.28502823C>T |
Drury pers comm;Schulz pers comm |
CLN3_000002 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
2 |
c.105G>A |
r.(?) |
p.(Trp35*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0015 protein truncation |
Unknown |
g.28502823C>T |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
CLN3_000002 |
- |
? |
? |
NCL |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
Germany, USA |
- |
1 |
Y Yang |
./. |
2i |
c.125+5G>A |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
- |
Unknown |
g.28502798C>T |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
CLN3_000047 |
- |
? |
? |
NCL |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
Belgium |
- |
1 |
Y Yang |
./. |
2i |
c.126-1G>A |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
- |
Unknown |
g.28500708C>T |
Taschner et al unpublished results |
CLN3_000003 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
2i |
c.126-1G>A |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
- |
Unknown |
g.28500708C>T |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
CLN3_000003 |
- |
? |
? |
NCL |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
Turkey |
- |
1 |
Y Yang |
./. |
3 |
c.214C>T |
r.(?) |
p.(Gln72*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0015 protein truncation |
Unknown |
g.28500619G>A |
Meyer pers comm |
CLN3_000004 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
3i |
c.222+2T>G |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
Unknown |
g.28500609A>C |
Santorelli and Michelakakis pers comm |
CLN3_000005 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
3i |
c.222+5G>C |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
Unknown |
g.28500606C>G |
Schulz per comm |
CLN3_000006 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
3i |
c.222+5G>C |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
Unknown |
g.28500606C>G |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
CLN3_000006 |
- |
? |
? |
NCL |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
Germany |
- |
1 |
Y Yang |
./. |
4 |
c.233_234insC |
r.(?) |
p.(Thr80Asnfs*12) |
VariO:0142 DNA insertion |
VariO:0023 amphigoric amino acid indel |
Unknown |
g.28499972_28499973insG |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
CLN3_000048 |
- |
? |
? |
NCL |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
Turkey |
- |
1 |
Y Yang |
./. |
4i |
c.295-81G>A |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
- |
Unknown |
g.28499143C>T |
Taschner et al unpublished results |
CLN3_000008 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
4i |
c.295-59G>A |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
- |
Unknown |
g.28499121C>T |
Taschner et al unpublished results |
CLN3_000007 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
5 |
c.302T>C |
r.(?) |
p.(Leu101Pro) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
Unknown |
g.28499055A>G |
Munroe et al. Am J Hum Genet 61:310-316 1997 |
CLN3_000009 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
5 |
c.370_371insT |
r.(?) |
p.(Tyr124Leufs*36) |
VariO:0142 DNA insertion |
VariO:0023 amphigoric amino acid indel |
Unknown |
g.28498986_28498987insA |
Sims pers comm |
CLN3_000010 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
6 |
c.379delC |
r.(?) |
p.(Arg127Glyfs*54) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
Unknown |
g.28498858delG |
A. Burkina pers comm |
CLN3_000011 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
6 |
c.400T>C |
r.(?) |
p.(Cys134Arg) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
Unknown |
g.28498837A>G |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
CLN3_000049 |
- |
? |
? |
NCL |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
Italy |
- |
1 |
Y Yang |
./. |
6 |
c.424delG |
r.(?) |
p.(Val142Leufs*39) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
Unknown |
g.28498813delC |
Munroe et al. Am J Hum Genet 61:310-316 1997;Bensaoula et al. Ophthalmology 107: 1746-1753 2000 |
CLN3_000012 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
6i |
c.461-13G>C |
r.(=) |
p.(=) |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
Unknown |
g.28497984C>G |
Munroe et al. Am J Hum Genet 61:310-316 1997 |
CLN3_000013 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
6i |
c.461-1G>A |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
- |
Unknown |
g.28497972C>T |
A Basinger, pers comm |
CLN3_000014 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
6i |
c.461-1G>C |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
Unknown |
g.28497972C>G |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
CLN3_000050 |
- |
? |
? |
NCL |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
Canada |
- |
1 |
Y Yang |
./. |
7 |
c.472G>C |
r.(?) |
p.(Ala158Pro) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
Unknown |
g.28497960C>G |
Sims pers comm |
CLN3_000015 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
7 |
c.482C>G |
r.(?) |
p.(Ser161*) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0015 protein truncation |
Unknown |
g.28497950G>C |
Munroe et al. Am J Hum Genet 61:310-316 1997 |
CLN3_000016 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
7 |
c.485C>G |
r.(?) |
p.(Ser162*) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0015 protein truncation |
Unknown |
g.28497947G>C |
Munroe et al. Am J Hum Genet 61:310-316 1997 |
CLN3_000017 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
7 |
c.509T>C |
r.(?) |
p.(Leu170Pro) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
Unknown |
g.28497923A>G |
Munroe et al. Am J Hum Genet 61:310-316 1997 |
CLN3_000018 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
7i |
c.533+1G>A |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
- |
Unknown |
g.28497898C>T |
Sims pers comm |
CLN3_000020 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
7i |
c.533+1G>C |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
Unknown |
g.28497898C>G |
The International Batten Disease Consortium. Cell 82:949-9571995;Munroe et al. Neuropediatrics 28:15-17 1997 |
CLN3_000019 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
8 |
c.558_559delAG |
r.(?) |
p.(Gly187Aspfs*48) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
Unknown |
g.28497786_28497787delCT |
Munroe et al. Am J Hum Genet 61:310-316 1997 |
CLN3_000021 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
8 |
c.560G>C |
r.(?) |
p.(Gly187Ala) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
Unknown |
g.28497785C>G |
Taschner et al unpublished results |
CLN3_000022 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
8 |
c.560G>C |
r.(?) |
p.(Gly187Ala) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
Unknown |
g.28497785C>G |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
CLN3_000022 |
- |
? |
? |
NCL |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
Spain, The Netherlands |
- |
1 |
Y Yang |
./. |
8 |
c.565G>C |
r.(?) |
p.(Gly189Arg) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
Unknown |
g.28497780C>G |
F. Laranjeira, pers comm |
CLN3_000023 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
8 |
c.565G>C |
r.(?) |
p.(Gly189Arg) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
Unknown |
g.28497780C>G |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
CLN3_000023 |
- |
? |
? |
NCL |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
Portugal |
- |
1 |
Y Yang |
./. |
8 |
c.568delG |
r.(?) |
p.(Gly190Glufs*65) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
Unknown |
g.28497777delC |
Bessa et al 2006 Mol Genet Mab 89:245-253 |
CLN3_000024 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
8 |
c.586_587insG |
r.(?) |
p.(Ala196Glyfs*40) |
VariO:0142 DNA insertion |
VariO:0023 amphigoric amino acid indel |
Unknown |
g.28497758_28497759insC |
Munroe et al. Am J Hum Genet 61:310-316 1997 |
CLN3_000025 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
8 |
c.597C>A |
r.(?) |
p.(Tyr199*) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0015 protein truncation |
Unknown |
g.28497748G>T |
Sarpong et al. 2009. Clin Genet. 76:38-45;Stone pers comm |
CLN3_000026 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
8 |
c.622_623insT |
r.(?) |
p.(Ser208Phefs*28) |
VariO:0142 DNA insertion |
VariO:0023 amphigoric amino acid indel |
Unknown |
g.28497722_28497723insA |
M Milàpers comm |
CLN3_000027 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
8 |
c.631C>T |
r.(?) |
p.(Gln211*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0015 protein truncation |
Unknown |
g.28497714G>A |
Munroe et al. Am J Hum Genet 61:310-316 1997 |
CLN3_000028 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
11 |
c.883G>A |
r.(?) |
p.(Glu295Lys) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
Unknown |
g.28493821C>T |
Munroe et al. Am J Hum Genet 61:310-316 1997;Zhong et al. Hum Genet 102:57-62 1998 |
CLN3_000029 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
11 |
c.883G>T |
r.(?) |
p.(Glu295*) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0015 protein truncation |
Unknown |
g.28493821C>A |
Zhong pers comm |
CLN3_000030 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
11i |
c.906+5G>A |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
- |
Unknown |
g.28493793C>T |
Zhong pers comm |
CLN3_000031 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
11i |
c.907-46del |
r.(=) |
p.(=) |
VariO:0141 DNA deletion |
- |
Unknown |
g.28493749del |
Sims pers comm |
CLN3_000032 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
12 |
c.944_945insA |
r.(?) |
p.(His315Glnfs*67) |
VariO:0142 DNA insertion |
VariO:0023 amphigoric amino acid indel |
Unknown |
g.28493665_28493666insT |
Munroe et al. Am J Hum Genet 61:310-316 1997 |
CLN3_000033 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
12_12i |
c.954_962+18del |
r.? |
p.? |
VariO:0141 DNA deletion |
- |
Unknown |
g.28493630_28493656del |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
CLN3_000051 |
- |
? |
? |
NCL |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
Sweden, Norway, The Netherlands |
- |
1 |
Y Yang |
./. |
12i |
c.963-1G>T |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
Unknown |
g.28493520C>A |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
CLN3_000052 |
- |
? |
? |
NCL |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
UK |
- |
1 |
Y Yang |
./. |
13 |
c.979C>T |
r.(?) |
p.(Gln327*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0015 protein truncation |
Unknown |
g.28493503G>A |
Munroe et al. Am J Hum Genet 61:310-316 1997 |
CLN3_000034 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
13 |
c.988G>T |
r.(?) |
p.(Val330Phe) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
Unknown |
g.28493494C>A |
Munroe et al. Am J Hum Genet 61:310-316 1997 |
CLN3_000035 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
13 |
c.1000C>T |
r.(?) |
p.(Arg334Cys) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0021 amino acid substitution |
Unknown |
g.28493482G>A |
Munroe et al. Am J Hum Genet 61:310-316 1997 |
CLN3_000036 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
13 |
c.1001G>A |
r.(?) |
p.(Arg334His) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
Unknown |
g.28493481C>T |
Munroe et al. Am J Hum Genet 61:310-316 1997 |
CLN3_000037 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
13 |
c.1048delC |
r.(?) |
p.(Leu350Cysfs*27) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
Unknown |
g.28493434delG |
A. Burkina pers comm |
CLN3_000038 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
13 |
c.1054C>T |
r.(?) |
p.(Gln352*) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition |
VariO:0015 protein truncation |
Unknown |
g.28493428G>A |
Munroe et al. Am J Hum Genet 61:310-316 1997;R Niezen de Boer pers comm |
CLN3_000039 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
13 |
c.1056G>C |
r.(?) |
p.(Gln352His) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0021 amino acid substitution |
Unknown |
g.28493426C>G |
Leman et al. Hum Genet 116:236 2005 |
CLN3_000040 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
13i |
c.1056+3A>C |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
Unknown |
g.28493423T>G |
Drury pers comm |
CLN3_000041 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
14 |
c.1195G>T |
r.(?) |
p.(Glu399*) |
VariO:0136 DNA substitution; VariO:0316 transversion |
VariO:0015 protein truncation |
Unknown |
g.28489060C>A |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
CLN3_000053 |
- |
? |
? |
NCL |
Kousi M1, Lehesjoki AE, Mole SE.(2012) |
Italy |
- |
1 |
Y Yang |
./. |
14i |
c.1198-1G>T |
r.spl? |
p.? |
VariO:0136 DNA substitution; VariO:0316 transversion |
- |
Unknown |
g.28488957C>A |
Munroe et al. Am J Hum Genet 61:310-316 1997;K Temple pers comm 2004 |
CLN3_000042 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
15 |
c.1211A>G |
r.(?) |
p.(His404Arg) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
Unknown |
g.28488943T>C |
Eksandh et al. 2000 Ophthalmic Genetics 21: 69-71. |
CLN3_000045 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
15 |
c.1247A>G |
r.(?) |
p.(Asp416Gly) |
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition |
VariO:0021 amino acid substitution |
Unknown |
g.28488907T>C |
Sims pers comm |
CLN3_000044 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |
./. |
15 |
c.1272delG |
r.(?) |
p.(Leu425Serfs*87) |
VariO:0141 DNA deletion |
VariO:0023 amphigoric amino acid indel |
Unknown |
g.28488882delC |
Munroe et al. Am J Hum Genet 61:310-316 1997 |
CLN3_000043 |
- |
? |
? |
NCL |
- |
- |
- |
1 |
Y Yang |