Genomic variant #0000218865

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30993160G>T
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000160
Frequency 8/12728
Freq. EA 7/8492
Freq. AA 1/4236
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.524+19C>A r.(=) p.(=)