Genomic variant #0000218905

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.31010026_31010027insT
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000200
Frequency 3/11678
Freq. EA 1/7938
Freq. AA 2/3740
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.165_166insA r.(?) p.(Arg56Thrfs*24)