Genomic variant #0001637240

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.76130674T>C
Reference Copied from the Exome Variant Server
DB-ID TMC8_000076
Frequency 388/13000
Freq. EA 319/8598
Freq. AA 69/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TMC8 NM_152468.4 ?/? c.987+29T>C r.(=) p.(=)