Genomic variant #0000218915

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.31010132G>T
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000210
Frequency 10/12318
Freq. EA 10/8330
Freq. AA 0/3988
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.60C>A r.(?) p.(Asp20Glu)