Genomic variant #0001635361

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.74474899C>A
Reference Copied from the Exome Variant Server
DB-ID RHBDF2_000147
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RHBDF2 NM_024599.5 ?/? c.748G>T r.(?) p.(Ala250Ser)