Genomic variant #0001814909

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.56435974C>T
Reference Copied from the Exome Variant Server
DB-ID NLRP13_000189
Frequency 66/13006
Freq. EA 2/8600
Freq. AA 64/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
NLRP13 NM_176810.2 ?/? c.439G>A r.(?) p.(Glu147Lys)