Genomic variant #0000128295

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.156212358del
Reference Copied from the Exome Variant Server
DB-ID PMF1-BGLAP_000017
Frequency 24/12168
Freq. EA 2/7998
Freq. AA 22/4170
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PMF1-BGLAP NM_001199661.1 ?/? c.518del r.(?) p.(Gly27Valfs*19)
BGLAP NM_199173.4 ?/? c.79del r.(?) p.(Gly27Valfs*19)