Genomic variant #0000218895

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.31000540del
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000190
Frequency 28/11474
Freq. EA 2/7836
Freq. AA 26/3638
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.199-35del r.(=) p.(=)