chr1:247424227:C>T Detail (hg38) (NLRP3)

Information

Genome

Assembly Position
hg19 chr1:247,587,529-247,587,529 View the variant detail on this assembly version.
hg38 chr1:247,424,227-247,424,227

HGVS

Type Transcript Protein
RefSeq NM_001127462.2:c.778C>T NP_001120934.1:p.Arg260Ter
NM_001243133.1:c.778C>T NP_001230062.1:p.Arg260Ter
NM_004895.4:c.778C>T NP_004886.3:p.Arg260Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
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 COSM88490 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
Pathogenic other germline MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
Pathogenic familial cold autoinflammatory syndrome germline MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2002-06-01 no assertion criteria provided Familial amyloid nephropathy with urticaria AND deafness germline Detail
Pathogenic 2002-06-01 no assertion criteria provided familial cold autoinflammatory syndrome 1 germline not provided Detail
Pathogenic 2021-11-22 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2023-10-29 criteria provided, single submitter Cryopyrin associated periodic syndrome germline Detail
Pathogenic 2021-03-26 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
0.567 Muckle-Wells syndrome NA CLINVAR Detail
0.133 Cryopyrin-Associated Periodic Syndromes The genetic analysis detected the heterozygous germline p.R260W mutation in the ... BeFree 24501247 Detail
<0.001 Amyloid nephropathy Muckle-Wells syndrome was most likely, although no amyloid nephropathy was obser... BeFree 16556280 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter) AND Familial amyloid nephropathy with urticaria AND dea... ClinVar Detail
NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter) AND Familial cold autoinflammatory syndrome 1 ClinVar Detail
NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter) AND not provided ClinVar Detail
NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter) AND Cryopyrin associated periodic syndrome ClinVar Detail
NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter) AND Autoinflammatory syndrome ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
The genetic analysis detected the heterozygous germline p.R260W mutation in the NLRP3 gene in the th... DisGeNET 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
rs121908150 dbSNP
Genome
hg38
Position
chr1:247,424,227-247,424,227
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser