Genomic variant #0000218859

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30987153C>G
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000154
Frequency 6/12626
Freq. EA 6/8428
Freq. AA 0/4198
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.544G>C r.(?) p.(Asp182His)