Genomic variant #0000218858

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30987139_30987140insC
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000153
Frequency 1/12070
Freq. EA 1/8060
Freq. AA 0/4010
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.557_558insG r.(?) p.(Phe187Leufs*71)