Genomic variant #0000623070

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.13230385C>T
Reference Copied from the Exome Variant Server
DB-ID PHACTR1_000082
Frequency 1/12500
Freq. EA 1/8400
Freq. AA 0/4100
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PHACTR1 NM_001242648.1 ?/? c.1351C>T r.(?) p.(Arg451Trp)