Genomic variant #0000218830

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30977244C>T
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000113
Frequency 45/12132
Freq. EA 40/8278
Freq. AA 5/3854
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.867-14G>A r.(=) p.(=)