Genomic variant #0000218901

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.31010001C>T
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000196
Frequency 1/12202
Freq. EA 0/8280
Freq. AA 1/3922
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.191G>A r.(?) p.(Arg64Gln)