Genomic variant #0000218856

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30987123G>C
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000151
Frequency 1/12638
Freq. EA 0/8438
Freq. AA 1/4200
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.574C>G r.(?) p.(Leu192Val)