Variant #0000002707 (NC_000016.9:g.28498813delC, CLN3(NM_000086.2):c.424delG)

Individual ID 00002707
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.28498813delC
Reference Munroe et al. Am J Hum Genet 61:310-316 1997;Bensaoula et al. Ophthalmology 107: 1746-1753 2000
DB-ID CLN3_000012
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
CLN3 NM_000086.2 ./. 6 c.424delG r.(?) p.(Val142Leufs*39) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002707 ? ? CLN3 1 Y Yang