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 |
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
Descrption | Source | Links |
---|---|---|
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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