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.1049C>T r.(?) p.(Thr350Met) - pathogenic g.247587794C>T g.247424492C>T NLRP3(NM_001243133.2):c.1043C>T (p.T348M) - NLRP3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.1049C>T r.(?) p.(Thr350Met) - pathogenic g.247587794C>T g.247424492C>T NLRP3(NM_001243133.2):c.1043C>T (p.T348M) - NLRP3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 4 c.1049C>T r.(?) p.(Thr350Met) - pathogenic g.247587794C>T g.247424492C>T - - NLRP3_000068 - MORL Deafness Variation Database, PubMed: Dodé 2002 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
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