All variants in the NLRP3 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.214G>A r.(?) p.(Val72Met) - VUS g.247582310G>A g.247419008G>A NLRP3(NM_001243133.1):c.208G>A (p.V70M), NLRP3(NM_004895.4):c.214G>A (p.V72M) - NLRP3_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.214G>A r.(?) p.(Val72Met) - likely benign g.247582310G>A g.247419008G>A NLRP3(NM_001243133.1):c.208G>A (p.V70M), NLRP3(NM_004895.4):c.214G>A (p.V72M) - NLRP3_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.214G>A r.(?) p.(Val72Met) - likely pathogenic g.247582310G>A g.247419008G>A NLRP3 (NM_004895.4):c.214G>A(p.V72M) - NLRP3_000177 - PubMed: Sun 2018 - - Germline/De novo (untested) ? 134 - 0 - LOVD
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