Variant #0000002470 (NC_000007.13:g.143013404C>A, CLCN1(NM_000083.2):c.99C>A)

Individual ID 00002470
Chromosome 7
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.143013404C>A
Reference Richardson RC1, Tarleton JC, Bird TD, Gospe SM Jr.(2014)
DB-ID CLCN1_000080
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     
CLCN1 NM_000083.2 ./. 1 c.99C>A r.(?) p.(Tyr33*) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0015 protein truncation



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002470 ? ? CLCN1 1 Y Yang