Full data view for gene NLRP3

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

4 entries on 1 page. Showing entries 1 - 4.
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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.598G>A r.(?) p.(Val200Met) Unknown - likely benign g.247587343G>A g.247424041G>A NLRP3(NM_001243133.1):c.592G>A (p.V198M), NLRP3(NM_001243133.2):c.592G>A (p.V198M), NLRP3(NM_004895.4):c.598G>A (p.V200M) - NLRP3_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.598G>A r.(?) p.(Val200Met) Unknown - benign g.247587343G>A g.247424041G>A NLRP3(NM_001243133.1):c.592G>A (p.V198M), NLRP3(NM_001243133.2):c.592G>A (p.V198M), NLRP3(NM_004895.4):c.598G>A (p.V200M) - NLRP3_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.598G>A r.(?) p.(Val200Met) Unknown - VUS g.247587343G>A g.247424041G>A NLRP3(NM_001243133.1):c.592G>A (p.V198M), NLRP3(NM_001243133.2):c.592G>A (p.V198M), NLRP3(NM_004895.4):c.598G>A (p.V200M) - NLRP3_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.598G>A r.(?) p.(Val200Met) Parent #1 - VUS g.247587343G>A g.247424041G>A - - NLRP3_000184 conflicting interpretations of pathogenicity; 28 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908147 Germline - 28/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 28 Mohammed Faruq
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