Genomic variant #0000218838

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30981047A>T
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000133
Frequency 1/11858
Freq. EA 0/8160
Freq. AA 1/3698
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.775-44T>A r.(=) p.(=)