Genomic variant #0000218873

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30993285C>G
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000169
Frequency 6/12622
Freq. EA 5/8448
Freq. AA 1/4174
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.418G>C r.(?) p.(Val140Leu)