Variant #0000002811 (NC_000015.9:g.68501977G>C, CLN6(NM_017882.2):c.663C>G)

Individual ID 00002811
Chromosome 15
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.68501977G>C
Reference Siintola et al 2005 Clin Genet 68:167-173
DB-ID CLN6_000036
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     
CLN6 NM_017882.2 ./. 6 c.663C>G r.(?) p.(Tyr221*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002811 ? ? CLN6 1 Y Yang