Genomic variant #0001781944

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.45895278G>C
Reference Copied from the Exome Variant Server
DB-ID PPP1R13L_000046
Frequency 1/13000
Freq. EA 1/8594
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PPP1R13L NM_006663.3 ?/? c.1675C>G r.(?) p.(Pro559Ala)