Genomic variant #0001782001

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.45899894_45899895insG
Reference Copied from the Exome Variant Server
DB-ID PPP1R13L_000103
Frequency 139/8616
Freq. EA 88/5924
Freq. AA 51/2692
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PPP1R13L NM_006663.3 ?/? c.620_621insC r.(?) p.(Ala208Cysfs*47)