Genomic variant #0000128284

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.156211993G>T
Reference Copied from the Exome Variant Server
DB-ID PMF1-BGLAP_000001
Frequency 1/13000
Freq. EA 1/8598
Freq. AA 0/4402
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.504-351G>T r.(=) p.(=)
BGLAP NM_199173.4 ?/? c.-30G>T r.(=) p.(=)