Variant #0000002724 (NC_000016.9:g.28493821C>T, CLN3(NM_000086.2):c.883G>A)

Individual ID 00002724
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.28493821C>T
Reference Munroe et al. Am J Hum Genet 61:310-316 1997;Zhong et al. Hum Genet 102:57-62 1998
DB-ID CLN3_000029
Frequency -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
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 ./. 11 c.883G>A r.(?) p.(Glu295Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002724 ? ? CLN3 1 Y Yang