chr1:247424356:G>A Detail (hg38) (NLRP3)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr1:247,587,658-247,587,658 View the variant detail on this assembly version.
hg38	chr1:247,424,356-247,424,356

HGVS

NLRP3

Type	Transcript	Protein
RefSeq	NM_001127462.2:c.907G>A	NP_001120934.1:p.Asp303Asn
	NM_001243133.1:c.907G>A	NP_001230062.1:p.Asp303Asn
	NM_004895.4:c.907G>A	NP_004886.3:p.Asp303Asn
	NM_183395.2:c.907G>A	NP_899632.1:p.Asp303Asn
	NM_001079821.2:c.907G>A	NP_001073289.1:p.Asp303Asn
Ensemble	ENST00000336119.8:c.907G>A	ENST00000336119.8:p.Asp303Asn
	ENST00000348069.7:c.907G>A	ENST00000348069.7:p.Asp303Asn
	ENST00000366496.7:c.907G>A	ENST00000366496.7:p.Asp303Asn
	ENST00000391827.3:c.907G>A	ENST00000391827.3:p.Asp303Asn
	ENST00000391828.8:c.907G>A	ENST00000391828.8:p.Asp303Asn
	ENST00000474792.2:c.907G>A	ENST00000474792.2:p.Asp303Asn
	ENST00000643234.2:c.907G>A	ENST00000643234.2:p.Asp303Asn
	ENST00000697350.1:c.907G>A	ENST00000697350.1:p.Asp303Asn
	ENST00000697408.2:c.907G>A	ENST00000697408.2:p.Asp303Asn

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

NLRP3

Type	Database	ID	Link
Gene	MIM	606416	OMIM
	HGNC	16400	HGNC
	Ensembl	ENSG00000162711	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC	COSM1668637	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		other	germline	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University
Pathogenic		other	unknown	MGS000001 (TMGS000179)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2002-07-01	no assertion criteria provided	Chronic infantile neurological, cutaneous and articular syndrome	germline	Detail
Pathogenic	2002-07-01	no assertion criteria provided	Familial amyloid nephropathy with urticaria AND deafness	germline	Detail
not provided		no assertion provided	familial cold autoinflammatory syndrome 1	not provided	Detail
Pathogenic	2023-04-18	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-12-11	criteria provided, single submitter	Cryopyrin associated periodic syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.567	Familial cold urticaria	NA	CLINVAR		Detail
0.567	Muckle-Wells syndrome	NA	CLINVAR		Detail
0.450	Chronic Infantile Neurological, Cutaneous, and Articular Syndrome	NA	CLINVAR		Detail
0.450	Chronic Infantile Neurological, Cutaneous, and Articular Syndrome	Our findings identify the novel p.D303H NLRP3 variant in a Spanish patient with ...	BeFree	20131270	Detail
0.002	Cryopyrin-Associated Periodic Syndromes	Recombinant oligomeric protein particles composed of the adaptor ASC or the p.D3...	BeFree	24952504	Detail
0.567	Muckle-Wells syndrome	The test showed a D305N heterozygous mutation in the NLRP3 gene, which is consis...	BeFree	24365011	Detail
0.133	Cryopyrin-Associated Periodic Syndromes	Recombinant oligomeric protein particles composed of the adaptor ASC or the p.D3...	BeFree	24952504	Detail
<0.001	Amyloid nephropathy	Muckle-Wells syndrome was most likely, although no amyloid nephropathy was obser...	BeFree	16556280	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn) AND Chronic infantile neurological, cutaneous and artic...	ClinVar	Detail
NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn) AND Familial amyloid nephropathy with urticaria AND dea...	ClinVar	Detail
NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn) AND Familial cold autoinflammatory syndrome 1	ClinVar	Detail
NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn) AND not provided	ClinVar	Detail
NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn) AND Cryopyrin associated periodic syndrome	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Our findings identify the novel p.D303H NLRP3 variant in a Spanish patient with CINCA/NOMID as a new...	DisGeNET	Detail
Recombinant oligomeric protein particles composed of the adaptor ASC or the p.D303N mutant form of N...	DisGeNET	Detail
The test showed a D305N heterozygous mutation in the NLRP3 gene, which is consistent with the diagno...	DisGeNET	Detail
Recombinant oligomeric protein particles composed of the adaptor ASC or the p.D303N mutant form of N...	DisGeNET	Detail
Muckle-Wells syndrome was most likely, although no amyloid nephropathy was observed and no gene muta...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs121908153 dbSNP
Genome: hg38
Position: chr1:247,424,356-247,424,356
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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