chr1:247424765:C>T 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	chr1:247,588,067-247,588,067 View the variant detail on this assembly version.
hg38	chr1:247,424,765-247,424,765

HGVS

NLRP3

Type	Transcript	Protein
RefSeq	NM_001127462.2:c.1316C>T	NP_001120934.1:p.Ala439Val
	NM_001243133.1:c.1316C>T	NP_001230062.1:p.Ala439Val
	NM_004895.4:c.1316C>T	NP_004886.3:p.Ala439Val
	NM_183395.2:c.1316C>T	NP_899632.1:p.Ala439Val
	NM_001079821.2:c.1316C>T	NP_001073289.1:p.Ala439Val
Ensemble	ENST00000336119.8:c.1316C>T	ENST00000336119.8:p.Ala439Val
	ENST00000348069.7:c.1316C>T	ENST00000348069.7:p.Ala439Val
	ENST00000366496.7:c.1316C>T	ENST00000366496.7:p.Ala439Val
	ENST00000391827.3:c.1316C>T	ENST00000391827.3:p.Ala439Val
	ENST00000391828.8:c.1316C>T	ENST00000391828.8:p.Ala439Val
	ENST00000474792.2:c.1316C>T	ENST00000474792.2:p.Ala439Val
	ENST00000643234.2:c.1316C>T	ENST00000643234.2:p.Ala439Val
	ENST00000697350.1:c.1316C>T	ENST00000697350.1:p.Ala439Val
	ENST00000697408.2:c.1316C>T	ENST00000697408.2:p.Ala439Val

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	1
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
Show details

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
	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

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2023-07-26	criteria provided, single submitter	familial cold autoinflammatory syndrome 1	germline not provided	Detail
Pathogenic	2022-11-23	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-09-20	criteria provided, single submitter	Cryopyrin associated periodic syndrome	germline	Detail
Pathogenic	2021-01-06	criteria provided, single submitter	Autoinflammatory syndrome	germline	Detail
Pathogenic	2021-07-29	criteria provided, single submitter	familial cold autoinflammatory syndrome 1,Keratitis fugax hereditaria,Familial amyloid nephropathy with urticaria AND deafness,Hearing loss, autosomal dominant 34, with or without inflammation,Chronic infantile neurological, cutaneous and articular syndrome	unknown	Detail
Pathogenic	2021-07-29	criteria provided, single submitter	familial cold autoinflammatory syndrome 1,Keratitis fugax hereditaria,Familial amyloid nephropathy with urticaria AND deafness,Hearing loss, autosomal dominant 34, with or without inflammation,Chronic infantile neurological, cutaneous and articular syndrome	unknown	Detail
Pathogenic	2021-07-29	criteria provided, single submitter	familial cold autoinflammatory syndrome 1,Keratitis fugax hereditaria,Familial amyloid nephropathy with urticaria AND deafness,Hearing loss, autosomal dominant 34, with or without inflammation,Chronic infantile neurological, cutaneous and articular syndrome	unknown	Detail
Pathogenic	2021-07-29	criteria provided, single submitter	familial cold autoinflammatory syndrome 1,Keratitis fugax hereditaria,Familial amyloid nephropathy with urticaria AND deafness,Hearing loss, autosomal dominant 34, with or without inflammation,Chronic infantile neurological, cutaneous and articular syndrome	unknown	Detail
Pathogenic	2021-07-29	criteria provided, single submitter	familial cold autoinflammatory syndrome 1,Keratitis fugax hereditaria,Familial amyloid nephropathy with urticaria AND deafness,Hearing loss, autosomal dominant 34, with or without inflammation,Chronic infantile neurological, cutaneous and articular syndrome	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.567	Familial cold urticaria	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) AND Familial cold autoinflammatory syndrome 1	ClinVar	Detail
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) AND not provided	ClinVar	Detail
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) AND Cryopyrin associated periodic syndrome	ClinVar	Detail
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) AND Autoinflammatory syndrome	ClinVar	Detail
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) AND multiple conditions	ClinVar	Detail
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) AND multiple conditions	ClinVar	Detail
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) AND multiple conditions	ClinVar	Detail
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) AND multiple conditions	ClinVar	Detail
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) AND multiple conditions	ClinVar	Detail
NA	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: rs121908146 dbSNP
Genome: hg38
Position: chr1:247,424,765-247,424,765
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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