Genomic variant #0000218875

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30993328C>G
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000173
Frequency 497/12368
Freq. EA 52/8364
Freq. AA 445/4004
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.388-13G>C r.(=) p.(=)