Genomic variant #0000218874

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30993308T>A
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000171
Frequency 7/12488
Freq. EA 6/8412
Freq. AA 1/4076
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.395A>T r.(?) p.(Gln132Leu)