Genomic variant #0000947732

Chromosome 9
DNA change (genomic) (Relative to hg19 / GRCh37) g.134501803T>C
Reference Copied from the Exome Variant Server
DB-ID RAPGEF1_000167
Frequency 1/12194
Freq. EA 1/8294
Freq. AA 0/3900
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RAPGEF1 NM_005312.2 ?/? c.1157A>G r.(?) p.(Tyr386Cys)