Genomic variant #0001977094

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.96139670G>T
Reference Copied from the Exome Variant Server
DB-ID DIAPH2_000033
Frequency 1/10563
Freq. EA 0/6728
Freq. AA 1/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
DIAPH2 NM_006729.4 ?/? c.587+2953G>T r.(?) p.(Val121Phe)
RPA4 NM_013347.4 ?/? c.361G>T r.(?) p.(Val121Phe)