Genomic variant #0000218894

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.31000517A>G
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000189
Frequency 1/11950
Freq. EA 1/8194
Freq. AA 0/3756
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.199-12T>C r.(=) p.(=)