Genomic variant #0000218866

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30993162G>A
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000161
Frequency 50/12734
Freq. EA 1/8498
Freq. AA 49/4236
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.524+17C>T r.(=) p.(=)