chr1:247424507:T>C 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	chr1:247,587,809-247,587,809 View the variant detail on this assembly version.
hg38	chr1:247,424,507-247,424,507

HGVS

NLRP3

Type	Transcript	Protein
RefSeq	NM_001127462.2:c.1058T>C	NP_001120934.1:p.Leu353Pro
	NM_001243133.1:c.1058T>C	NP_001230062.1:p.Leu353Pro
	NM_004895.4:c.1058T>C	NP_004886.3:p.Leu353Pro
	NM_183395.2:c.1058T>C	NP_899632.1:p.Leu353Pro
	NM_001079821.2:c.1058T>C	NP_001073289.1:p.Leu353Pro
Ensemble	ENST00000336119.8:c.1058T>C	ENST00000336119.8:p.Leu353Pro
	ENST00000348069.7:c.1058T>C	ENST00000348069.7:p.Leu353Pro
	ENST00000366496.7:c.1058T>C	ENST00000366496.7:p.Leu353Pro
	ENST00000391827.3:c.1058T>C	ENST00000391827.3:p.Leu353Pro
	ENST00000391828.8:c.1058T>C	ENST00000391828.8:p.Leu353Pro
	ENST00000474792.2:c.1058T>C	ENST00000474792.2:p.Leu353Pro
	ENST00000643234.2:c.1058T>C	ENST00000643234.2:p.Leu353Pro
	ENST00000697350.1:c.1058T>C	ENST00000697350.1:p.Leu353Pro
	ENST00000697408.2:c.1058T>C	ENST00000697408.2:p.Leu353Pro

Summary

MGeND

Clinical significance
Variant entry
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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2003-02-01	no assertion criteria provided	familial cold autoinflammatory syndrome 1	germline not provided	Detail
Pathogenic	2018-04-13	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Hearing loss, autosomal dominant 34, with or without inflammation,Keratitis fugax hereditaria,Chronic infantile neurological, cutaneous and articular syndrome,familial cold autoinflammatory syndrome 1,Familial amyloid nephropathy with urticaria AND deafness	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Hearing loss, autosomal dominant 34, with or without inflammation,Keratitis fugax hereditaria,Chronic infantile neurological, cutaneous and articular syndrome,familial cold autoinflammatory syndrome 1,Familial amyloid nephropathy with urticaria AND deafness	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Hearing loss, autosomal dominant 34, with or without inflammation,Keratitis fugax hereditaria,Chronic infantile neurological, cutaneous and articular syndrome,familial cold autoinflammatory syndrome 1,Familial amyloid nephropathy with urticaria AND deafness	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Hearing loss, autosomal dominant 34, with or without inflammation,Keratitis fugax hereditaria,Chronic infantile neurological, cutaneous and articular syndrome,familial cold autoinflammatory syndrome 1,Familial amyloid nephropathy with urticaria AND deafness	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Hearing loss, autosomal dominant 34, with or without inflammation,Keratitis fugax hereditaria,Chronic infantile neurological, cutaneous and articular syndrome,familial cold autoinflammatory syndrome 1,Familial amyloid nephropathy with urticaria AND deafness	unknown	Detail
Pathogenic	2024-01-29	criteria provided, single submitter	Cryopyrin associated periodic syndrome	germline	Detail
Pathogenic	2019-02-05	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.567	Familial cold urticaria	NA	CLINVAR		Detail
0.567	Familial cold urticaria	Fine structure mapping of CIAS1: identification of an ancestral haplotype and a ...	BeFree	12522564	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) AND Familial cold autoinflammatory syndrome 1	ClinVar	Detail
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) AND not provided	ClinVar	Detail
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) AND multiple conditions	ClinVar	Detail
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) AND multiple conditions	ClinVar	Detail
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) AND multiple conditions	ClinVar	Detail
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) AND multiple conditions	ClinVar	Detail
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) AND multiple conditions	ClinVar	Detail
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) AND Cryopyrin associated periodic syndrome	ClinVar	Detail
NM_001243133.2(NLRP3):c.1058T>C (p.Leu353Pro) AND not specified	ClinVar	Detail
NA	DisGeNET	Detail
Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation...	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: rs28937896 dbSNP
Genome: hg38
Position: chr1:247,424,507-247,424,507
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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