PKD1L1 Chromosome 7
Polycystin 1 like 1, transient receptor potential channel interacting
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What This Gene Does
This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
Associated Conditions (8)
PKD1L1-related disorder
Inborn genetic diseases
Heterotaxy
visceral
8
autosomal
Situs inversus
Visceral heterotaxy
Key Variants
RS10274334
Conflicting classifications of pathogenicity
Health Risk
RS111983425
Conflicting classifications of pathogenicity
PKD1L1-related disorder, PKD1L1-related disorder
Health Risk
RS116988549
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139293796
Conflicting classifications of pathogenicity
Health Risk
RS139651403
Conflicting classifications of pathogenicity
Inborn genetic diseases, PKD1L1-related disorder, Inborn genetic diseases
Health Risk
RS139858574
Conflicting classifications of pathogenicity
Health Risk
RS140064044
Conflicting classifications of pathogenicity
Heterotaxy, visceral, 8
Health Risk
RS141015632
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS141074403
Conflicting classifications of pathogenicity
Inborn genetic diseases, PKD1L1-related disorder, Inborn genetic diseases
Health Risk
RS141425680
Conflicting classifications of pathogenicity
PKD1L1-related disorder, PKD1L1-related disorder
Health Risk
RS141685583
Conflicting classifications of pathogenicity
Inborn genetic diseases, PKD1L1-related disorder, Inborn genetic diseases
Health Risk
RS142048596
Conflicting classifications of pathogenicity
Inborn genetic diseases, PKD1L1-related disorder, Inborn genetic diseases
Health Risk
All Variants (78)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS765720584 | Health Risk | Likely pathogenic | Heterotaxy, visceral, 8 |
| RS780706088 | Health Risk | Likely pathogenic | — |
| RS867742191 | Health Risk | Likely pathogenic | Heterotaxy, visceral, 8 |
| RS948915766 | Health Risk | Likely pathogenic | PKD1L1-related disorder, PKD1L1-related disorder |
| RS971735211 | Health Risk | Likely pathogenic | PKD1L1-related disorder, PKD1L1-related disorder |
| RS1312358074 | Health Risk | Pathogenic | — |
| RS1368625580 | Health Risk | Pathogenic | — |
| RS137883370 | Health Risk | Pathogenic | Heterotaxy, visceral, 8 |
| RS141974473 | Health Risk | Pathogenic | PKD1L1-related disorder, Heterotaxy, visceral |
| RS1562996059 | Health Risk | Pathogenic | — |
| RS1784643052 | Health Risk | Pathogenic | Heterotaxy, visceral, 8 |
| RS1786435779 | Health Risk | Pathogenic | Heterotaxy, visceral, 8 |
| RS200853469 | Health Risk | Pathogenic | PKD1L1-related disorder, Heterotaxy, visceral |
| RS2128759192 | Health Risk | Pathogenic | — |
| RS2483876525 | Health Risk | Pathogenic | — |
| RS370984700 | Health Risk | Pathogenic | Heterotaxy, visceral, 8 |
| RS752673990 | Health Risk | Pathogenic | — |
| RS753911740 | Health Risk | Pathogenic | Visceral heterotaxy, Heterotaxy, visceral |
| RS757118245 | Health Risk | Pathogenic | Heterotaxy, visceral, 8 |
| RS758330344 | Health Risk | Pathogenic | — |
| RS765571333 | Health Risk | Pathogenic | — |
| RS766993216 | Health Risk | Pathogenic | — |
| RS769346811 | Health Risk | Pathogenic | PKD1L1-related disorder, PKD1L1-related disorder |
| RS779701706 | Health Risk | Pathogenic | — |
| RS780278874 | Health Risk | Pathogenic | Heterotaxy, visceral, 8 |
| RS528302390 | Health Risk | Pathogenic/Likely pathogenic | Situs inversus, Heterotaxy, visceral |
| RS746133743 | Health Risk | Pathogenic/Likely pathogenic | PKD1L1-related disorder, Heterotaxy, visceral |
| RS772622926 | Health Risk | Pathogenic/Likely pathogenic | Heterotaxy, visceral, 8 |