Genomic variant #0001199749

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.50155563_50155566del
Reference Copied from the Exome Variant Server
DB-ID TMBIM6_000070
Frequency 1/12518
Freq. EA 0/8254
Freq. AA 1/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TMBIM6 NM_003217.2 ?/? c.690+1_690+4del r.spl? p.?