Genomic variant #0000218829

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30977212T>C
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000111
Frequency 17/12152
Freq. EA 0/8272
Freq. AA 17/3880
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.885A>G r.(=) p.(=)