Genomic variant #0000218882

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30998791C>T
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000174
Frequency 1/12228
Freq. EA 1/8306
Freq. AA 0/3922
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+5G>A r.spl? p.?