Genomic variant #0000218860

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.30987154G>A
Reference Copied from the Exome Variant Server
DB-ID CAPN13_000155
Frequency 1/12620
Freq. EA 0/8430
Freq. AA 1/4190
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
CAPN13 NM_144575.2 ?/? c.543C>T r.(=) p.(=)