Genomic variant #0000218837

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30980940C>T
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000131
Frequency 9121/12072
Freq. EA 5641/8248
Freq. AA 3480/3824
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.838G>A r.(?) p.(Ala280Thr)