Genomic variant #0001170052

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.6425473G>A
Reference Copied from the Exome Variant Server
DB-ID PLEKHG6_000071
Frequency 13/12898
Freq. EA 0/8530
Freq. AA 13/4368
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PLEKHG6 NM_018173.3 ?/? c.659G>A r.(?) p.(Arg220Gln)