Genomic variant #0000218870

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30993256T>A
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000165
Frequency 1/12700
Freq. EA 0/8466
Freq. AA 1/4234
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.447A>T r.(=) p.(=)