Genomic variant #0000128312

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.156212825del
Reference Copied from the Exome Variant Server
DB-ID PMF1-BGLAP_000023
Frequency 1/12520
Freq. EA 0/8254
Freq. AA 1/4266
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.614del r.(?) p.(Ala59Profs*100)
BGLAP NM_199173.4 ?/? c.175del r.(?) p.(Ala59Profs*100)