Genomic variant #0001170060

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.6425569C>T
Reference Copied from the Exome Variant Server
DB-ID PLEKHG6_000079
Frequency 3/12962
Freq. EA 1/8574
Freq. AA 2/4388
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PLEKHG6 NM_018173.3 ?/? c.755C>T r.(?) p.(Thr252Met)