Genomic variant #0000218868

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30993236C>T
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000163
Frequency 2/12800
Freq. EA 1/8510
Freq. AA 1/4290
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.467G>A r.(?) p.(Arg156His)