Genomic variant #0000218832

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30977273C>A
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000120
Frequency 2/12126
Freq. EA 0/8276
Freq. AA 2/3850
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.867-43G>T r.(=) p.(=)