Genomic variant #0000218847

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30986993C>T
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000142
Frequency 5/12338
Freq. EA 0/8320
Freq. AA 5/4018
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.699+5G>A r.spl? p.?