Variant #0000002721 (NC_000016.9:g.28497748G>T, CLN3(NM_000086.2):c.597C>A)

Individual ID 00002721
Chromosome 16
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.28497748G>T
Reference Sarpong et al. 2009. Clin Genet. 76:38-45;Stone pers comm
DB-ID CLN3_000026
Frequency -
Average frequency (gnomAD v.2.1.1) 0 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 ./. 8 c.597C>A r.(?) p.(Tyr199*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002721 ? ? CLN3 1 Y Yang