Genomic variant #0001344407

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.77767644C>T
Reference Copied from the Exome Variant Server
DB-ID POMT2_000142
Frequency 1/7272
Freq. EA 0/4618
Freq. AA 1/2654
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
POMT2 NM_013382.5 ?/? c.657-52G>A r.(=) p.(=)