chr1:247424764:G>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	chr1:247,588,066-247,588,066 View the variant detail on this assembly version.
hg38	chr1:247,424,764-247,424,764

HGVS

NLRP3

Type	Transcript	Protein
RefSeq	NM_001127462.2:c.1315G>C	NP_001120934.1:p.Ala439Pro
	NM_001243133.1:c.1315G>C	NP_001230062.1:p.Ala439Pro
	NM_004895.4:c.1315G>C	NP_004886.3:p.Ala439Pro
	NM_183395.2:c.1315G>C	NP_899632.1:p.Ala439Pro
	NM_001079821.2:c.1315G>C	NP_001073289.1:p.Ala439Pro
Ensemble	ENST00000336119.8:c.1315G>C	ENST00000336119.8:p.Ala439Pro
	ENST00000348069.7:c.1315G>C	ENST00000348069.7:p.Ala439Pro
	ENST00000366496.7:c.1315G>C	ENST00000366496.7:p.Ala439Pro
	ENST00000391827.3:c.1315G>C	ENST00000391827.3:p.Ala439Pro
	ENST00000391828.8:c.1315G>C	ENST00000391828.8:p.Ala439Pro
	ENST00000474792.2:c.1315G>C	ENST00000474792.2:p.Ala439Pro
	ENST00000643234.2:c.1315G>C	ENST00000643234.2:p.Ala439Pro
	ENST00000697350.1:c.1315G>C	ENST00000697350.1:p.Ala439Pro
	ENST00000697408.2:c.1315G>C	ENST00000697408.2:p.Ala439Pro

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	not provided
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	somatic	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	familial cold autoinflammatory syndrome 1	not provided	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.1315G>C (p.Ala439Pro) AND Familial cold autoinflammatory syndrome 1	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: rs180177430 dbSNP
Genome: hg38
Position: chr1:247,424,764-247,424,764
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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