Genomic variant #0001344343

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.77750246del
Reference Copied from the Exome Variant Server
DB-ID POMT2_000078
Frequency 1/12514
Freq. EA 0/8250
Freq. AA 1/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
POMT2 NM_013382.5 ?/? c.1577-30del r.(=) p.(=)