Genomic variant #0000218883

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30998792G>A
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000176
Frequency 1/12222
Freq. EA 1/8302
Freq. AA 0/3920
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.387+4C>T r.spl? p.?