Genomic variant #0001982113

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.110395674C>T
Reference Copied from the Exome Variant Server
DB-ID PAK3_000025
Frequency 1/10561
Freq. EA 0/6726
Freq. AA 1/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PAK3 NM_002578.3 ?/? c.467C>T r.(?) p.(Ser156Leu)