Full data view for gene NLRP3

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.796C>T r.(?) p.(Leu266Phe) Unknown - pathogenic g.247587541C>T g.247424239C>T NLRP3(NM_001243133.1):c.790C>T (p.L264F) - NLRP3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 4 c.796C>T r.(?) p.(Leu266Phe) Parent #1 - pathogenic g.247587541C>T g.247424239C>T - - NLRP3_000035 - MORL Deafness Variation Database, PubMed: Aksentijevich 2007, PubMed: Tanaka 2011, PubMed: Tanaka 2011 - - SUMMARY record - - - 0 - DNA ? - - ? - PubMed: Aksentijevich 2007, PubMed: Tanaka 2011, PubMed: Tanaka 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
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