Genomic variant #0001994539

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.153070346C>T
Reference Copied from the Exome Variant Server
DB-ID PDZD4_000044
Frequency 1/10552
Freq. EA 1/6718
Freq. AA 0/3834
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PDZD4 NM_032512.2 ?/? c.772G>A r.(?) p.(Glu258Lys)