Variant #0000005635 (NC_000007.13:g.143048771C>T, CLCN1(NM_000083.2):c.2680C>T)

Individual ID 00005646
Chromosome 7
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.143048771C>T
Reference Tincheva S et al. (2016)
DB-ID CLCN1_000013 See all 4 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00297 View details
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
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 ./. 23 c.2680C>T r.(?) p.(Arg894*) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005660 ? ? CLCN1 1 XY Liu