Genomic variant #0001344441

Chromosome 14
DNA change (genomic) (Relative to hg19 / GRCh37) g.77787068_77787071del
Reference Copied from the Exome Variant Server
DB-ID POMT2_000174
Frequency 151/8188
Freq. EA 137/5700
Freq. AA 14/2488
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
POMT2 NM_013382.5 ?/? c.-47_-44del r.(=) p.(=)