NLRP5 Chromosome 19
NLR family pyrin domain containing 5
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What This Gene Does
The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD). Expression of this gene is restricted to the oocyte. A mouse gene that encodes a maternal oocyte protein, similar to this encoded protein, is required for normal early embryogenesis. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"NLR family|Pyrin domain containing|Subcortical maternal complex"
Locus Type
gene with protein product
Location
19q13.43
Ensembl
ENSG00000171487
Associated Conditions (4)
Oocyte/zygote/embryo maturation arrest 19
NLRP5-related disorder
Preimplantation lethality
Inherited oocyte maturation defect
Key Variants
RS199676313
Conflicting classifications of pathogenicity
Health Risk
RS200554283
Conflicting classifications of pathogenicity
Health Risk
RS2514452737
Conflicting classifications of pathogenicity
Oocyte/zygote/embryo maturation arrest 19, Oocyte/zygote/embryo maturation arrest 19
Health Risk
RS35696923
Conflicting classifications of pathogenicity
NLRP5-related disorder, NLRP5-related disorder
Health Risk
RS368341158
Conflicting classifications of pathogenicity
Health Risk
RS370931495
Conflicting classifications of pathogenicity
Health Risk
RS551593086
Conflicting classifications of pathogenicity
Health Risk
RS1982970899
Likely pathogenic
Preimplantation lethality, Preimplantation lethality
Health Risk
RS199475763
Likely pathogenic
Health Risk
RS1199743522
Pathogenic
Health Risk
RS1235069213
Pathogenic
Oocyte/zygote/embryo maturation arrest 19, Oocyte/zygote/embryo maturation arrest 19
Health Risk
RS1255066720
Pathogenic
Oocyte/zygote/embryo maturation arrest 19, Oocyte/zygote/embryo maturation arrest 19
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199676313 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200554283 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2514452737 | Health Risk | Conflicting classifications of pathogenicity | Oocyte/zygote/embryo maturation arrest 19, Oocyte/zygote/embryo maturation arrest 19 |
| RS35696923 | Health Risk | Conflicting classifications of pathogenicity | NLRP5-related disorder, NLRP5-related disorder |
| RS368341158 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370931495 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS551593086 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1982970899 | Health Risk | Likely pathogenic | Preimplantation lethality, Preimplantation lethality |
| RS199475763 | Health Risk | Likely pathogenic | — |
| RS1199743522 | Health Risk | Pathogenic | — |
| RS1235069213 | Health Risk | Pathogenic | Oocyte/zygote/embryo maturation arrest 19, Oocyte/zygote/embryo maturation arrest 19 |
| RS1255066720 | Health Risk | Pathogenic | Oocyte/zygote/embryo maturation arrest 19, Oocyte/zygote/embryo maturation arrest 19 |
| RS1381057964 | Health Risk | Pathogenic | Oocyte/zygote/embryo maturation arrest 19, Oocyte/zygote/embryo maturation arrest 19 |
| RS1568483598 | Health Risk | Pathogenic | — |
| RS2514452515 | Health Risk | Pathogenic | Oocyte/zygote/embryo maturation arrest 19, Oocyte/zygote/embryo maturation arrest 19 |
| RS769276313 | Health Risk | Pathogenic | Oocyte/zygote/embryo maturation arrest 19, Oocyte/zygote/embryo maturation arrest 19 |
| RS1411539218 | Health Risk | Pathogenic/Likely pathogenic | Inherited oocyte maturation defect, Oocyte/zygote/embryo maturation arrest 19, Inherited oocyte maturation defect |
| RS759339985 | Health Risk | Pathogenic/Likely pathogenic | Inherited oocyte maturation defect, Oocyte/zygote/embryo maturation arrest 19, Inherited oocyte maturation defect |