Genomic variant #0001964469

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.48375733del
Reference Copied from the Exome Variant Server
DB-ID PORCN_000057
Frequency 8/8978
Freq. EA 7/5642
Freq. AA 1/3336
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PORCN NM_022825.2 ?/? c.1251+52del r.(=) p.(=)