Genomic variant #0000218831

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30977245A>G
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000117
Frequency 51/12128
Freq. EA 1/8274
Freq. AA 50/3854
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.867-15T>C r.(=) p.(=)