Genomic variant #0000218842

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30986006T>C
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000137
Frequency 3/12338
Freq. EA 0/8348
Freq. AA 3/3990
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.716A>G r.(?) p.(Gln239Arg)