Genomic variant #0001170058

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.6425545T>C
Reference Copied from the Exome Variant Server
DB-ID PLEKHG6_000077
Frequency 7/12960
Freq. EA 7/8580
Freq. AA 0/4380
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PLEKHG6 NM_018173.3 ?/? c.731T>C r.(?) p.(Ile244Thr)