Genomic variant #0000218840

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30985998C>T
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000135
Frequency 1/12360
Freq. EA 1/8354
Freq. AA 0/4006
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.724G>A r.(?) p.(Glu242Lys)