Genomic variant #0000559470

Chromosome 5
DNA change (genomic) (Relative to hg19 / GRCh37) g.78981070_78981071insT
Reference Copied from the Exome Variant Server
DB-ID PAPD4_000088
Frequency 1/12520
Freq. EA 1/8254
Freq. AA 0/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PAPD4 NM_173797.3 ?/? c.1429_1430insT r.(?) p.(Arg478Lysfs*21)