Genomic variant #0000218881

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30998776C>T
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000172
Frequency 145/12152
Freq. EA 0/8272
Freq. AA 145/3880
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.387+20G>A r.(=) p.(=)