Genomic variant #0000218850

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30987040C>T
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000145
Frequency 2/12576
Freq. EA 2/8420
Freq. AA 0/4156
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.657G>A r.(=) p.(=)