Genomic variant #0001972864

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.70443552G>A
Reference Copied from the Exome Variant Server
DB-ID GJB1_000003
Frequency 3/10563
Freq. EA 3/6728
Freq. AA 0/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GJB1 NM_000166.5 ?/? c.-6G>A r.(=) p.(=)