Genomic variant #0000623052

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.13206302C>T
Reference Copied from the Exome Variant Server
DB-ID PHACTR1_000064
Frequency 2/12532
Freq. EA 2/8400
Freq. AA 0/4132
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PHACTR1 NM_001242648.1 ?/? c.920C>T r.(?) p.(Pro307Leu)