Genomic variant #0000218845

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30986986C>G
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000140
Frequency 2/12302
Freq. EA 0/8312
Freq. AA 2/3990
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.699+12G>C r.(=) p.(=)