Genomic variant #0000298516

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.182852572del
Reference Copied from the Exome Variant Server
DB-ID PPP1R1C_000010
Frequency 403/11640
Freq. EA 317/7932
Freq. AA 86/3708
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PPP1R1C NM_001080545.2 ?/? c.88del r.(?) p.(Arg31Glufs*9)