Genomic variant #0001972873

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.70444228G>A
Reference Copied from the Exome Variant Server
DB-ID GJB1_000012
Frequency 1/10557
Freq. EA 1/6724
Freq. AA 0/3833
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GJB1 NM_000166.5 ?/? c.671G>A r.(?) p.(Arg224His)