Genomic variant #0000623064

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.13228244_13228252del
Reference Copied from the Exome Variant Server
DB-ID PHACTR1_000076
Frequency 1/11778
Freq. EA 1/7960
Freq. AA 0/3818
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PHACTR1 NM_001242648.1 ?/? c.1183_1191del r.(?) p.(Glu399_Glu401del)