Genomic variant #0000218857

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30987133G>A
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000152
Frequency 2/12596
Freq. EA 0/8418
Freq. AA 2/4178
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.564C>T r.(=) p.(=)