PLD1 Chromosome 3
Phospholipase D1
Upload your DNA to see your personal genotypes for variants in PLD1.
What This Gene Does
This gene encodes a phosphatidylcholine-specific phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011]
Gene Info
Gene Group
"Phospholipases|Pleckstrin homology domain containing"
Locus Type
gene with protein product
Location
3q26.31
Ensembl
ENSG00000075651
Associated Conditions (4)
Cardiac valvular defect
developmental
Inborn genetic diseases
Malignant tumor of esophagus
Key Variants
RS143219477
Conflicting classifications of pathogenicity
Cardiac valvular defect, developmental, Cardiac valvular defect
Health Risk
RS149184731
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149535568
Conflicting classifications of pathogenicity
Health Risk
RS191988004
Conflicting classifications of pathogenicity
Health Risk
RS367799271
Conflicting classifications of pathogenicity
Cardiac valvular defect, developmental, Cardiac valvular defect
Health Risk
RS376280389
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS536513156
Conflicting classifications of pathogenicity
Cardiac valvular defect, developmental, Cardiac valvular defect
Health Risk
RS556433569
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS567323716
Conflicting classifications of pathogenicity
Cardiac valvular defect, developmental, Cardiac valvular defect
Health Risk
RS746291174
Conflicting classifications of pathogenicity
Cardiac valvular defect, developmental, Cardiac valvular defect
Health Risk
RS754297172
Conflicting classifications of pathogenicity
Health Risk
RS779667018
Conflicting classifications of pathogenicity
Cardiac valvular defect, developmental, Cardiac valvular defect
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143219477 | Health Risk | Conflicting classifications of pathogenicity | Cardiac valvular defect, developmental, Cardiac valvular defect |
| RS149184731 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149535568 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS191988004 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS367799271 | Health Risk | Conflicting classifications of pathogenicity | Cardiac valvular defect, developmental, Cardiac valvular defect |
| RS376280389 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS536513156 | Health Risk | Conflicting classifications of pathogenicity | Cardiac valvular defect, developmental, Cardiac valvular defect |
| RS556433569 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS567323716 | Health Risk | Conflicting classifications of pathogenicity | Cardiac valvular defect, developmental, Cardiac valvular defect |
| RS746291174 | Health Risk | Conflicting classifications of pathogenicity | Cardiac valvular defect, developmental, Cardiac valvular defect |
| RS754297172 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779667018 | Health Risk | Conflicting classifications of pathogenicity | Cardiac valvular defect, developmental, Cardiac valvular defect |
| RS1487673182 | Health Risk | Likely pathogenic | Cardiac valvular defect, developmental, Cardiac valvular defect |
| RS1719235551 | Health Risk | Likely pathogenic | Cardiac valvular defect, developmental, Cardiac valvular defect |
| RS191205035 | Health Risk | Likely pathogenic | — |
| RS202167212 | Health Risk | Likely pathogenic | Cardiac valvular defect, developmental, Cardiac valvular defect |
| RS2108509028 | Health Risk | Likely pathogenic | — |
| RS2473988650 | Health Risk | Likely pathogenic | Cardiac valvular defect, developmental, Cardiac valvular defect |
| RS374719323 | Health Risk | Likely pathogenic | Cardiac valvular defect, developmental, Cardiac valvular defect |
| RS762026031 | Health Risk | Likely pathogenic | — |
| RS778311238 | Health Risk | Likely pathogenic | Cardiac valvular defect, developmental, Cardiac valvular defect |
| RS1085307450 | Health Risk | Pathogenic | Cardiac valvular defect, developmental, Cardiac valvular defect |
| RS1717462000 | Health Risk | Pathogenic | — |
| RS2108242515 | Health Risk | Pathogenic | — |
| RS2473919563 | Health Risk | Pathogenic | — |
| RS751346031 | Health Risk | Pathogenic | — |
| RS752727641 | Health Risk | Pathogenic | — |
| RS760229620 | Health Risk | Pathogenic | Cardiac valvular defect, developmental, Cardiac valvular defect |
| RS769669104 | Health Risk | Pathogenic | Cardiac valvular defect, developmental, Cardiac valvular defect |
| RS771187817 | Health Risk | Pathogenic | — |
| RS200206423 | Health Risk | Pathogenic/Likely pathogenic | Cardiac valvular defect, developmental, Cardiac valvular defect |
| RS760657350 | Health Risk | Pathogenic/Likely pathogenic | Malignant tumor of esophagus, Malignant tumor of esophagus |