Genomic variant #0000218878

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30993345A>G
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000179
Frequency 6/12300
Freq. EA 6/8340
Freq. AA 0/3960
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.388-30T>C r.(=) p.(=)