Genomic variant #0000218839

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30985977G>A
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000134
Frequency 46/12394
Freq. EA 40/8368
Freq. AA 6/4026
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.745C>T r.(?) p.(His249Tyr)