Genomic variant #0001170054

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.6425496G>C
Reference Copied from the Exome Variant Server
DB-ID PLEKHG6_000073
Frequency 2/12916
Freq. EA 0/8550
Freq. AA 2/4366
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PLEKHG6 NM_018173.3 ?/? c.682G>C r.(?) p.(Gly228Arg)