Genomic variant #0000128303

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.156212555del
Reference Copied from the Exome Variant Server
DB-ID PMF1-BGLAP_000032
Frequency 21/12520
Freq. EA 13/8254
Freq. AA 8/4266
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.545del r.(?) p.(Phe36Leufs*10)
BGLAP NM_199173.4 ?/? c.106del r.(?) p.(Phe36Leufs*10)