Genomic variant #0001994545

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.153070510C>T
Reference Copied from the Exome Variant Server
DB-ID PDZD4_000050
Frequency 1/10560
Freq. EA 1/6726
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.762+42G>A r.(=) p.(=)