NLRP7 Chromosome 19
NLR family pyrin domain containing 7
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What This Gene Does
This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP proteins are implicated in the activation of proinflammatory caspases through multiprotein complexes called inflammasomes. This gene may act as a feedback regulator of caspase-1-dependent interleukin 1-beta secretion. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"NLR family|Pyrin domain containing"
Locus Type
gene with protein product
Location
19q13.42
Ensembl
ENSG00000167634
Associated Conditions (8)
Hydatidiform mole
recurrent
1
Inborn genetic diseases
NLRP7-related disorder
Thyroid cancer
nonmedullary
Gastric cancer
Key Variants
RS104895524
Conflicting classifications of pathogenicity
Hydatidiform mole, recurrent, 1
Health Risk
RS104895526
Conflicting classifications of pathogenicity
Hydatidiform mole, recurrent, 1
Health Risk
RS104895529
Conflicting classifications of pathogenicity
Hydatidiform mole, recurrent, 1
Health Risk
RS141694326
Conflicting classifications of pathogenicity
Hydatidiform mole, recurrent, 1
Health Risk
RS143169084
Conflicting classifications of pathogenicity
Hydatidiform mole, recurrent, 1
Health Risk
RS145973556
Conflicting classifications of pathogenicity
Hydatidiform mole, recurrent, 1
Health Risk
RS146872991
Conflicting classifications of pathogenicity
Hydatidiform mole, recurrent, 1
Health Risk
RS150677758
Conflicting classifications of pathogenicity
Hydatidiform mole, recurrent, 1
Health Risk
RS200362946
Conflicting classifications of pathogenicity
Hydatidiform mole, recurrent, 1
Health Risk
RS200965650
Conflicting classifications of pathogenicity
Hydatidiform mole, recurrent, 1
Health Risk
RS61732584
Conflicting classifications of pathogenicity
Hydatidiform mole, recurrent, 1
Health Risk
RS746150420
Conflicting classifications of pathogenicity
Hydatidiform mole, recurrent, 1
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104895524 | Health Risk | Conflicting classifications of pathogenicity | Hydatidiform mole, recurrent, 1 |
| RS104895526 | Health Risk | Conflicting classifications of pathogenicity | Hydatidiform mole, recurrent, 1 |
| RS104895529 | Health Risk | Conflicting classifications of pathogenicity | Hydatidiform mole, recurrent, 1 |
| RS141694326 | Health Risk | Conflicting classifications of pathogenicity | Hydatidiform mole, recurrent, 1 |
| RS143169084 | Health Risk | Conflicting classifications of pathogenicity | Hydatidiform mole, recurrent, 1 |
| RS145973556 | Health Risk | Conflicting classifications of pathogenicity | Hydatidiform mole, recurrent, 1 |
| RS146872991 | Health Risk | Conflicting classifications of pathogenicity | Hydatidiform mole, recurrent, 1 |
| RS150677758 | Health Risk | Conflicting classifications of pathogenicity | Hydatidiform mole, recurrent, 1 |
| RS200362946 | Health Risk | Conflicting classifications of pathogenicity | Hydatidiform mole, recurrent, 1 |
| RS200965650 | Health Risk | Conflicting classifications of pathogenicity | Hydatidiform mole, recurrent, 1 |
| RS61732584 | Health Risk | Conflicting classifications of pathogenicity | Hydatidiform mole, recurrent, 1 |
| RS746150420 | Health Risk | Conflicting classifications of pathogenicity | Hydatidiform mole, recurrent, 1 |
| RS752268912 | Health Risk | Conflicting classifications of pathogenicity | Hydatidiform mole, recurrent, 1 |
| RS764734665 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS77072552 | Health Risk | Conflicting classifications of pathogenicity | Hydatidiform mole, recurrent, 1 |
| RS104895503 | Health Risk | Likely pathogenic | Hydatidiform mole, recurrent, 1 |
| RS2068825510 | Health Risk | Likely pathogenic | Hydatidiform mole, recurrent, 1 |
| RS2069219201 | Health Risk | Likely pathogenic | Hydatidiform mole, recurrent, 1 |
| RS2515738438 | Health Risk | Likely pathogenic | NLRP7-related disorder, NLRP7-related disorder |
| RS104895502 | Health Risk | Pathogenic | Hydatidiform mole, recurrent, 1 |
| RS104895504 | Health Risk | Pathogenic | Hydatidiform mole, recurrent, 1 |
| RS104895505 | Health Risk | Pathogenic | Hydatidiform mole, recurrent, 1 |
| RS104895506 | Health Risk | Pathogenic | Hydatidiform mole, recurrent, 1 |
| RS104895512 | Health Risk | Pathogenic | Hydatidiform mole, recurrent, 1 |
| RS104895525 | Health Risk | Pathogenic | Hydatidiform mole, recurrent, 1 |
| RS104895530 | Health Risk | Pathogenic | Hydatidiform mole, recurrent, 1 |
| RS104895547 | Health Risk | Pathogenic | Hydatidiform mole, recurrent, 1 |
| RS104895548 | Health Risk | Pathogenic | Hydatidiform mole, recurrent, 1 |
| RS104895549 | Health Risk | Pathogenic | Hydatidiform mole, recurrent, 1 |
| RS104895553 | Health Risk | Pathogenic | Hydatidiform mole, recurrent, 1 |
| RS104895554 | Health Risk | Pathogenic | Hydatidiform mole, recurrent, 1 |
| RS2069070395 | Health Risk | Pathogenic | Hydatidiform mole, recurrent, 1 |
| RS2069116238 | Health Risk | Pathogenic | Hydatidiform mole, Hydatidiform mole |
| RS2146218837 | Health Risk | Pathogenic | — |