Genomic variant #0001169999

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.6422408C>T
Reference Copied from the Exome Variant Server
DB-ID PLEKHG6_000018
Frequency 1/4566
Freq. EA 0/3182
Freq. AA 1/1384
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PLEKHG6 NM_018173.3 ?/? c.139-387C>T r.(=) p.(=)