Genomic variant #0000218863

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30987206C>A
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000158
Frequency 1/12704
Freq. EA 1/8470
Freq. AA 0/4234
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.525-34G>T r.(=) p.(=)