chr1:247424041:G>C Detail (hg38) (NLRP3)

Information

Genome

Assembly Position
hg19 chr1:247,587,343-247,587,343 View the variant detail on this assembly version.
hg38 chr1:247,424,041-247,424,041

HGVS

Type Transcript Protein
RefSeq NM_001127462.2:c.592G>C NP_001120934.1:p.Val198Leu
NM_001243133.1:c.592G>C NP_001230062.1:p.Val198Leu
NM_004895.4:c.592G>C NP_004886.3:p.Val198Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.567 Familial cold urticaria NA CLINVAR Detail
0.002 Inflammatory disorder We reviewed the clinical features of 3 members of a family, all of whom had MWS ... BeFree 14872505 Detail
0.002 Inflammatory disorder We reviewed the clinical features of 3 members of a family, all of whom had MWS ... BeFree 14872505 Detail
0.567 Muckle-Wells syndrome This resulted in the identification of four distinct mutations in a gene that se... UNIPROT 11687797 Detail
0.002 Inflammatory disorder We reviewed the clinical features of 3 members of a family, all of whom had MWS ... BeFree 14872505 Detail
0.133 Cryopyrin-Associated Periodic Syndromes The V198M mutation in the CIAS1 gene was identified in one patient with typical ... BeFree 17213252 Detail
0.567 Familial cold urticaria This resulted in the identification of four distinct mutations in a gene that se... UNIPROT 11687797 Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
We reviewed the clinical features of 3 members of a family, all of whom had MWS associated with the ... DisGeNET Detail
We reviewed the clinical features of 3 members of a family, all of whom had MWS associated with the ... DisGeNET Detail
This resulted in the identification of four distinct mutations in a gene that segregated with the di... DisGeNET Detail
We reviewed the clinical features of 3 members of a family, all of whom had MWS associated with the ... DisGeNET Detail
The V198M mutation in the CIAS1 gene was identified in one patient with typical BD but no symptoms o... DisGeNET Detail
This resulted in the identification of four distinct mutations in a gene that segregated with the di... 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
-
Genome
hg38
Position
chr1:247,424,041-247,424,041
Variant Type
snv
Reference Allele
G
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
120876
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.272940865018697E-6
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