Genomic variant #0000218919

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.31010187G>A
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000214
Frequency 4/12280
Freq. EA 0/8314
Freq. AA 4/3966
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.5C>T r.(?) p.(Ala2Val)