Genomic variant #0000218908

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.31010094C>T
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000203
Frequency 2/12278
Freq. EA 1/8320
Freq. AA 1/3958
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.98G>A r.(?) p.(Arg33Gln)