Genomic variant #0001972875

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.70444392C>T
Reference Copied from the Exome Variant Server
DB-ID GJB1_000014
Frequency 1/10240
Freq. EA 0/6513
Freq. AA 1/3727
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GJB1 NM_000166.5 ?/? c.835C>T r.(?) p.(Arg279Cys)