Genomic variant #0000218897

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.31009946G>A
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000192
Frequency 31/11756
Freq. EA 29/7988
Freq. AA 2/3768
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.198+48C>T r.(=) p.(=)