Genomic variant #0001637167

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.76128532G>C
Reference Copied from the Exome Variant Server
DB-ID TMC8_000003
Frequency 2/13000
Freq. EA 1/8598
Freq. AA 1/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TMC8 NM_152468.4 ?/? c.391G>C r.(?) p.(Val131Leu)