Genomic variant #0001814899

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.56435319C>G
Reference Copied from the Exome Variant Server
DB-ID NLRP13_000179
Frequency 1/13006
Freq. EA 0/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NLRP13 NM_176810.2 ?/? c.484G>C r.(?) p.(Asp162His)