Genomic variant #0001637223

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.76130444C>T
Reference Copied from the Exome Variant Server
DB-ID TMC8_000059
Frequency 1/12942
Freq. EA 0/8560
Freq. AA 1/4382
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TMC8 NM_152468.4 ?/? c.817-31C>T r.(=) p.(=)