NLRP12
HGNC:22938 · SaudiVarKB evidence summary derived from retained literature mentions.
1Gene mentions
1Publications
1Linked variants
3Associated phenotypes
Associated phenotypes
Co-mentioned in NLRP12 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| sickle cell disease | HP:0001878 | 1 | 1 |
| familial hypercholesterolemia | HP:0003124 | 1 | 1 |
| stroke | — | 1 | 1 |
Linked variants
Variants normalized to NLRP12| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| p.Arg284Ter | p.Arg284Ter | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Saudi Arabia | — | 22 | 1 |
Supporting publications
1 records- 2018Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease.Genetic testing and molecular biomarkersPubMed ↗