Genomic variant #0001169994

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.6421514G>A
Reference Copied from the Exome Variant Server
DB-ID PLEKHG6_000013
Frequency 3/13006
Freq. EA 0/8600
Freq. AA 3/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PLEKHG6 NM_018173.3 ?/? c.122G>A r.(?) p.(Arg41Gln)