Genomic variant #0001170048

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.6425081T>C
Reference Copied from the Exome Variant Server
DB-ID PLEKHG6_000067
Frequency 5/12976
Freq. EA 0/8582
Freq. AA 5/4394
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PLEKHG6 NM_018173.3 ?/? c.602T>C r.(?) p.(Met201Thr)