Genomic variant #0000218924

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.31010227T>C
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000219
Frequency 9/12166
Freq. EA 0/8310
Freq. AA 9/3856
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.-32-4A>G r.spl? p.?