Genomic variant #0000733294

Chromosome 7
DNA change (genomic) (Relative to hg19 / GRCh37) g.30100518T>C
Reference Copied from the Exome Variant Server
DB-ID PLEKHA8_000051
Frequency 4/13006
Freq. EA 0/8600
Freq. AA 4/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PLEKHA8 NM_032639.3 ?/? c.1058T>C r.(?) p.(Val353Ala)