Genomic variant #0000218896

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.31000562C>T
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000191
Frequency 68/4566
Freq. EA 2/3182
Freq. AA 66/1384
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.199-57G>A r.(=) p.(=)