Genomic variant #0001170053

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.6425493C>G
Reference Copied from the Exome Variant Server
DB-ID PLEKHG6_000072
Frequency 1/12916
Freq. EA 1/8548
Freq. AA 0/4368
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PLEKHG6 NM_018173.3 ?/? c.679C>G r.(?) p.(Leu227Val)