All variants in the NLRP3 gene

Information The variants shown are described using the NM_004895.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. - c.925G>A r.(?) p.(Gly309Ser) - pathogenic g.247587670G>A g.247424368G>A NLRP3(NM_001243133.1):c.919G>A (p.G307S) - NLRP3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/+ 4 c.925G>A r.(?) p.(Gly309Ser) - pathogenic g.247587670G>A g.247424368G>A - - NLRP3_000051 - MORL Deafness Variation Database, PubMed: Saito 2008, PubMed: Tanaka 2011, PubMed: Tanaka 2011, PubMed: Yokoyama 2015 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
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