Genomic variant #0000218918

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.31010186C>T
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000213
Frequency 2/12276
Freq. EA 0/8310
Freq. AA 2/3966
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.6G>A r.(=) p.(=)