Genomic variant #0000218891

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.31000425A>C
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000186
Frequency 1/12254
Freq. EA 0/8312
Freq. AA 1/3942
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.271+8T>G r.(=) p.(=)