Genomic variant #0000218893

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.31000480A>G
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000188
Frequency 1/12036
Freq. EA 1/8224
Freq. AA 0/3812
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.224T>C r.(?) p.(Phe75Ser)