chr1:247425167:T>C Detail (hg38) (NLRP3)

Information

Genome

Assembly Position
hg19 chr1:247,588,469-247,588,469 View the variant detail on this assembly version.
hg38 chr1:247,425,167-247,425,167

HGVS

Type Transcript Protein
RefSeq NM_001127462.2:c.1718T>C NP_001120934.1:p.Phe573Ser
NM_001243133.1:c.1718T>C NP_001230062.1:p.Phe573Ser
NM_004895.4:c.1718T>C NP_004886.3:p.Phe573Ser
Summary

MGeND

Clinical significance
Variant entry
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2002-07-01 no assertion criteria provided Chronic infantile neurological, cutaneous and articular syndrome germline Detail
not provided no assertion provided familial cold autoinflammatory syndrome 1 not provided Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.567 Familial cold urticaria NA CLINVAR Detail
0.450 Chronic Infantile Neurological, Cutaneous, and Articular Syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001243133.2(NLRP3):c.1718T>C (p.Phe573Ser) AND Chronic infantile neurological, cutaneous and arti... ClinVar Detail
NM_001243133.2(NLRP3):c.1718T>C (p.Phe573Ser) AND Familial cold autoinflammatory syndrome 1 ClinVar Detail
NA DisGeNET 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
rs121908152 dbSNP
Genome
hg38
Position
chr1:247,425,167-247,425,167
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser