Genomic variant #0000218825

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30977123T>C
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000124
Frequency 8/11904
Freq. EA 0/8196
Freq. AA 8/3708
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.941+33A>G r.(=) p.(=)