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.844G>C r.(?) p.(Asp282His) - likely benign g.247587589G>C g.247424287G>C NLRP3(NM_001079821.2):c.844G>C (p.(Asp282His)), NLRP3(NM_001243133.1):c.838G>C (p.D280H) - NLRP3_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.844G>C r.(?) p.(Asp282His) - VUS g.247587589G>C g.247424287G>C NLRP3(NM_001079821.2):c.844G>C (p.(Asp282His)), NLRP3(NM_001243133.1):c.838G>C (p.D280H) - NLRP3_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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