Genomic variant #0000623062

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.13228209C>T
Reference Copied from the Exome Variant Server
DB-ID PHACTR1_000074
Frequency 1/12340
Freq. EA 1/8348
Freq. AA 0/3992
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PHACTR1 NM_001242648.1 ?/? c.1148C>T r.(?) p.(Ser383Leu)