Genomic variant #0000218871

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30993268_30993269insAGGC
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000166
Frequency 1/12108
Freq. EA 1/8076
Freq. AA 0/4032
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.434_435insGCCT r.(?) p.(Val147Thrfs*6)