chr17:5582047:A>T Detail (hg38) (NLRP1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr17:5,485,367-5,485,367 View the variant detail on this assembly version. |
hg38 | chr17:5,582,047-5,582,047 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001033053.2:c.464T>A | NP_001028225.1:p.Leu155His |
NM_014922.4:c.464T>A | NP_055737.1:p.Leu155His | |
NM_033007.3:c.464T>A | NP_127500.1:p.Leu155His |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.042 |
ToMMo:0.039 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.035 |
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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2007-03-22 | no assertion criteria provided | Vitiligo-associated multiple autoimmune disease susceptibility 1 |
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Detail |
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2024-02-01 | criteria provided, single submitter | not provided |
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Detail |
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2021-09-05 | criteria provided, single submitter | Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome |
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Detail |
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2021-09-05 | criteria provided, single submitter | Autoinflammation with arthritis and dyskeratosis |
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Detail |
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2021-09-05 | criteria provided, single submitter | Respiratory papillomatosis, juvenile recurrent, congenital |
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Detail |
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2023-11-12 | criteria provided, single submitter | not specified |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.006 | Diabetes Mellitus, Insulin-Dependent | Three variants were found to be significantly associated with type 1 diabetes (T... | BeFree | 23922971 | Detail |
0.293 | Diabetes Mellitus, Insulin-Dependent | Our results demonstrated that IL2RA rs11594656 and CLEC16A rs725613 are protecti... | BeFree | 23922971 | Detail |
0.281 | Diabetes Mellitus, Insulin-Dependent | Our results demonstrated that IL2RA rs11594656 and CLEC16A rs725613 are protecti... | BeFree | 23922971 | Detail |
<0.001 | nephritis | Our results demonstrated that NLRP1 rs2670660 SNP and the NLRP1 rs12150220-rs267... | BeFree | 22235789 | Detail |
<0.001 | arthritis | Our results demonstrated that NLRP1 rs2670660 SNP and the NLRP1 rs12150220-rs267... | BeFree | 22235789 | Detail |
<0.001 | Lupus Erythematosus, Systemic | Our results demonstrated that NLRP1 rs2670660 SNP and the NLRP1 rs12150220-rs267... | BeFree | 22235789 | Detail |
0.363 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | NA | CLINVAR | Detail | |
<0.001 | Nodular melanoma | The NLRP1 variant (rs12150220) was significantly more common in fair-skinned fem... | BeFree | 22524199 | Detail |
0.363 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | The PYRIN domain: a novel motif found in apoptosis and inflammation proteins. | UNIPROT | 11270363 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_033004.4(NLRP1):c.464T>A (p.Leu155His) AND Vitiligo-associated multiple autoimmune disease suscep... | ClinVar | Detail |
NM_033004.4(NLRP1):c.464T>A (p.Leu155His) AND not provided | ClinVar | Detail |
NM_033004.4(NLRP1):c.464T>A (p.Leu155His) AND Corneal intraepithelial dyskeratosis-palmoplantar hype... | ClinVar | Detail |
NM_033004.4(NLRP1):c.464T>A (p.Leu155His) AND Autoinflammation with arthritis and dyskeratosis | ClinVar | Detail |
NM_033004.4(NLRP1):c.464T>A (p.Leu155His) AND Respiratory papillomatosis, juvenile recurrent, congen... | ClinVar | Detail |
NM_033004.4(NLRP1):c.464T>A (p.Leu155His) AND not specified | ClinVar | Detail |
Three variants were found to be significantly associated with type 1 diabetes (T1D): NLRP1 rs1215022... | DisGeNET | Detail |
Our results demonstrated that IL2RA rs11594656 and CLEC16A rs725613 are protective factors of T1D, w... | DisGeNET | Detail |
Our results demonstrated that IL2RA rs11594656 and CLEC16A rs725613 are protective factors of T1D, w... | DisGeNET | Detail |
Our results demonstrated that NLRP1 rs2670660 SNP and the NLRP1 rs12150220-rs2670660 A-G haplotype w... | DisGeNET | Detail |
Our results demonstrated that NLRP1 rs2670660 SNP and the NLRP1 rs12150220-rs2670660 A-G haplotype w... | DisGeNET | Detail |
Our results demonstrated that NLRP1 rs2670660 SNP and the NLRP1 rs12150220-rs2670660 A-G haplotype w... | DisGeNET | Detail |
NA | DisGeNET | Detail |
The NLRP1 variant (rs12150220) was significantly more common in fair-skinned female patients (OR, 1.... | DisGeNET | Detail |
The PYRIN domain: a novel motif found in apoptosis and inflammation proteins. | 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
- rs12150220 dbSNP
- Genome
- hg38
- Position
- chr17:5,582,047-5,582,047
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1192
- Mean of sample read depth (HGVD)
- 37.28
- Standard deviation of sample read depth (HGVD)
- 15.11
- Number of reference allele (HGVD)
- 2284
- Number of alternative allele (HGVD)
- 100
- Allele Frequency (HGVD)
- 0.04194630872483222
- Gene Symbol (HGVD)
- NLRP1
- 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))
- rs12150220
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0393
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 659
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 7562
- East Asian Allele Counts (ExAC)
- 265
- East Asian Heterozygous Counts (ExAC)
- 253
- East Asian Homozygous Counts (ExAC)
- 6
- East Asian Allele Frequency (ExAC)
- 0.035043639248875956
- Chromosome Counts in All Race (ExAC)
- 113710
- Allele Counts in All Race (ExAC)
- 42635
- Heterozygous Counts in All Race (ExAC)
- 24653
- Homozygous Counts in All Race (ExAC)
- 8991
- Allele Frequency in All Race (ExAC)
- 0.3749450356169202
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