Genomic variant #0000128285

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.156212005C>T
Reference Copied from the Exome Variant Server
DB-ID PMF1-BGLAP_000002
Frequency 1/12998
Freq. EA 0/8598
Freq. AA 1/4400
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.504-339C>T r.(=) p.(=)
BGLAP NM_199173.4 ?/? c.-18C>T r.(=) p.(=)