Genomic variant #0001170073

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.6426551C>G
Reference Copied from the Exome Variant Server
DB-ID PLEKHG6_000092
Frequency 2/13006
Freq. EA 2/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PLEKHG6 NM_018173.3 ?/? c.839C>G r.(?) p.(Thr280Ser)