Genomic variant #0001170005

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.6422790C>T
Reference Copied from the Exome Variant Server
DB-ID PLEKHG6_000024
Frequency 57/13006
Freq. EA 0/8600
Freq. AA 57/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PLEKHG6 NM_018173.3 ?/? c.139-5C>T r.spl? p.?