Genomic variant #0000218828

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30977201G>A
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000132
Frequency 1/12124
Freq. EA 1/8268
Freq. AA 0/3856
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.896C>T r.(?) p.(Pro299Leu)