Genomic variant #0000218879

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30998763_30998770del
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000168
Frequency 1/11598
Freq. EA 1/7914
Freq. AA 0/3684
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.387+26_387+33del r.(=) p.(=)