Variant #0000005637 (NC_000007.13:g.143021549G>A, CLCN1(NM_000083.2):c.817G>A)

Individual ID 00005648
Chromosome 7
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.143021549G>A
Reference Tincheva S et al. (2016)
DB-ID CLCN1_000099
Frequency -
Average frequency (gnomAD v.2.1.1) 0 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 ./. 7 c.817G>A r.(?) p.(Val273Met) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005662 ? ? CLCN1 1 XY Liu