Genomic variant #0001982140

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.110435480del
Reference Copied from the Exome Variant Server
DB-ID PAK3_000054
Frequency 1/10200
Freq. EA 1/6482
Freq. AA 0/3718
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PAK3 NM_002578.3 ?/? c.879+77del r.(=) p.(=)