chr1:247588631:A>G Detail (hg19) (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	chr1:247,588,631-247,588,631
hg38	chr1:247,425,329-247,425,329 View the variant detail on this assembly version.

HGVS

NLRP3

Type	Transcript	Protein
RefSeq	NM_183395.2:c.1880A>G	NP_899632.1:p.Glu627Gly
	NM_001127462.2:c.1880A>G	NP_001120934.1:p.Glu627Gly
	NM_001243133.1:c.1880A>G	NP_001230062.1:p.Glu627Gly
	NM_004895.4:c.1880A>G	NP_004886.3:p.Glu627Gly
	NM_001079821.2:c.1880A>G	NP_001073289.1:p.Glu627Gly
Ensemble	ENST00000366496.7:c.1880A>G	ENST00000366496.7:p.Glu627Gly
	ENST00000643234.2:c.1880A>G	ENST00000643234.2:p.Glu627Gly
	ENST00000348069.7:c.1880A>G	ENST00000348069.7:p.Glu627Gly
	ENST00000697350.1:c.1880A>G	ENST00000697350.1:p.Glu627Gly
	ENST00000336119.8:c.1880A>G	ENST00000336119.8:p.Glu627Gly
	ENST00000391828.8:c.1880A>G	ENST00000391828.8:p.Glu627Gly
	ENST00000474792.2:c.1880A>G	ENST00000474792.2:p.Glu627Gly
	ENST00000391827.3:c.1880A>G	ENST00000391827.3:p.Glu627Gly
	ENST00000697408.2:c.1880A>G	ENST00000697408.2:p.Glu627Gly

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2001-11-01	no assertion criteria provided	familial cold autoinflammatory syndrome 1	germline not provided	Detail
Likely pathogenic	2017-01-06	criteria provided, single submitter	Autoinflammatory syndrome	germline	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.1880A>G (p.Glu627Gly) AND Familial cold autoinflammatory syndrome 1	ClinVar	Detail
NM_001243133.2(NLRP3):c.1880A>G (p.Glu627Gly) AND Autoinflammatory syndrome	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: rs121908148 dbSNP
Genome: hg19
Position: chr1:247,588,631-247,588,631
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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