Genomic variant #0000218872

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30993272C>G
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000167
Frequency 2/12666
Freq. EA 0/8454
Freq. AA 2/4212
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.431G>C r.(?) p.(Arg144Pro)