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.999C>A r.(?) p.(Ser333Arg) - pathogenic g.247587744C>A g.247424442C>A NLRP3(NM_001243133.2):c.993C>A (p.S331R) - NLRP3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/+ 4 c.999C>A r.(?) p.(Ser333Arg) - pathogenic g.247587744C>A g.247424442C>A - - NLRP3_000063 - MORL Deafness Variation Database, PubMed: Jéru 2006 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
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