Genomic variant #0001994559

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.153071521C>G
Reference Copied from the Exome Variant Server
DB-ID PDZD4_000064
Frequency 1/10562
Freq. EA 1/6727
Freq. AA 0/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PDZD4 NM_032512.2 ?/? c.549+5G>C r.spl? p.?