chr1:247424234:T>G Detail (hg38) (NLRP3)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr1:247,587,536-247,587,536 View the variant detail on this assembly version.
hg38	chr1:247,424,234-247,424,234

HGVS

NLRP3

Type	Transcript	Protein
RefSeq	NM_001127462.2:c.785T>G	NP_001120934.1:p.Val262Gly
	NM_001243133.1:c.785T>G	NP_001230062.1:p.Val262Gly
	NM_004895.4:c.785T>G	NP_004886.3:p.Val262Gly
	NM_183395.2:c.785T>G	NP_899632.1:p.Val262Gly
	NM_001079821.2:c.785T>G	NP_001073289.1:p.Val262Gly
Ensemble	ENST00000336119.8:c.785T>G	ENST00000336119.8:p.Val262Gly
	ENST00000348069.7:c.785T>G	ENST00000348069.7:p.Val262Gly
	ENST00000366496.7:c.785T>G	ENST00000366496.7:p.Val262Gly
	ENST00000391827.3:c.785T>G	ENST00000391827.3:p.Val262Gly
	ENST00000391828.8:c.785T>G	ENST00000391828.8:p.Val262Gly
	ENST00000474792.2:c.785T>G	ENST00000474792.2:p.Val262Gly
	ENST00000643234.2:c.785T>G	ENST00000643234.2:p.Val262Gly
	ENST00000697350.1:c.785T>G	ENST00000697350.1:p.Val262Gly
	ENST00000697408.2:c.785T>G	ENST00000697408.2:p.Val262Gly

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
not provided		no assertion provided	familial cold autoinflammatory syndrome 1	not provided	Detail
Likely pathogenic	2020-01-02	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<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.785T>G (p.Val262Gly) AND Familial cold autoinflammatory syndrome 1	ClinVar	Detail
NM_001243133.2(NLRP3):c.785T>G (p.Val262Gly) AND not provided	ClinVar	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: rs104895392 dbSNP
Genome: hg38
Position: chr1:247,424,234-247,424,234
Variant Type: snv
Reference Allele: T
Alternative Allele: G

Genome browser