Variant #0000001797 (NC_000023.10:g.70443607C>A, GJB1(NM_001097642.2):c.50C>A)

Individual ID 00001797
Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.70443607C>A
Reference Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Subrt I, Seeman P.(2010)
DB-ID GJB1_000003
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     
GJB1 NM_001097642.2 ./. 2 c.50C>A r.(?) p.(Ser17Tyr) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001797 ? ? GJB1 1 Y Yang