chr1:247612036:G>C Detail (hg19) (NLRP3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:247,612,036-247,612,036 |
hg38 | chr1:247,448,734-247,448,734 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_183395.2:c.*230G>C | |
NM_001127462.2:c.*230G>C | ||
NM_001243133.1:c.*230G>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.572 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2017-04-27 | criteria provided, single submitter | Chronic infantile neurological, cutaneous and articular syndrome |
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Detail |
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2017-04-27 | criteria provided, single submitter | Familial amyloid nephropathy with urticaria AND deafness |
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Detail |
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2017-04-27 | criteria provided, single submitter | familial cold autoinflammatory syndrome 1 |
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Detail |
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2024-01-19 | criteria provided, single submitter | Cryopyrin associated periodic syndrome |
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Detail |
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2022-01-14 | criteria provided, single submitter | Autoinflammatory syndrome |
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Detail |
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2022-10-05 | criteria provided, single submitter | atypical hemolytic-uremic syndrome |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.020 | HIV Infections | The 2 polymorphisms rs10754558 in NLRP3 and rs1143634 in IL1B were significantly... | BeFree | 22227487 | Detail |
<0.001 | Human T-cell lymphotropic virus 1 infection | NLRP3 rs10754558 G/G was associated with protection against HTLV-1 infection (p ... | BeFree | 25411003 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_001243133.2(NLRP3):c.*230G>C AND Chronic infantile neurological, cutaneous and articular syndrome | ClinVar | Detail |
NM_001243133.2(NLRP3):c.*230G>C AND Familial amyloid nephropathy with urticaria AND deafness | ClinVar | Detail |
NM_001243133.2(NLRP3):c.*230G>C AND Familial cold autoinflammatory syndrome 1 | ClinVar | Detail |
NM_001243133.2(NLRP3):c.*230G>C AND Cryopyrin associated periodic syndrome | ClinVar | Detail |
NM_001243133.2(NLRP3):c.*230G>C AND Autoinflammatory syndrome | ClinVar | Detail |
NM_001243133.2(NLRP3):c.*230G>C AND Atypical hemolytic-uremic syndrome | ClinVar | Detail |
The 2 polymorphisms rs10754558 in NLRP3 and rs1143634 in IL1B were significantly associated to the H... | DisGeNET | Detail |
NLRP3 rs10754558 G/G was associated with protection against HTLV-1 infection (p = 0.012; odds ratio ... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs10754558 dbSNP
- Genome
- hg19
- Position
- chr1:247,612,036-247,612,036
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- C
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs10754558
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5721
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9588
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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