Genomic variant #0000128304

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.156212587_156212591del
Reference Copied from the Exome Variant Server
DB-ID PMF1-BGLAP_000034
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.577_581del r.(?) p.(Lys47Thrfs*27)
BGLAP NM_199173.4 ?/? c.138_142del r.(?) p.(Lys47Thrfs*27)