PRKD1 Chromosome 14
Protein kinase D1
Upload your DNA to see your personal genotypes for variants in PRKD1.
What This Gene Does
The protein encoded by this gene is a serine/threonine protein kinase involved in many cellular processes, including Golgi body membrane integrity and transport, cell migration and differentiation, MAPK8/JNK1 and Ras pathway signaling, MAPK1/3 (ERK1/2) pathway signaling, cell survival, and regulation of cell shape and adhesion. [provided by RefSeq, Jan 2017]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Protein kinase D family"
Locus Type
gene with protein product
Location
14q12
Ensembl
ENSG00000184304
Associated Conditions (4)
Premature ovarian failure
PRKD1-related disorder
Neurodevelopmental delay
Congenital heart defects and ectodermal dysplasia
Key Variants
RS144613015
Conflicting classifications of pathogenicity
Health Risk
RS145651161
Conflicting classifications of pathogenicity
Premature ovarian failure, Premature ovarian failure
Health Risk
RS147948478
Conflicting classifications of pathogenicity
PRKD1-related disorder, PRKD1-related disorder
Health Risk
RS1880565276
Conflicting classifications of pathogenicity
Health Risk
RS2139012188
Conflicting classifications of pathogenicity
Neurodevelopmental delay, Congenital heart defects and ectodermal dysplasia, Neurodevelopmental delay
Health Risk
RS541190639
Conflicting classifications of pathogenicity
Health Risk
RS776034417
Conflicting classifications of pathogenicity
Congenital heart defects and ectodermal dysplasia, Congenital heart defects and ectodermal dysplasia
Health Risk
RS1439477100
Likely pathogenic
Congenital heart defects and ectodermal dysplasia, Congenital heart defects and ectodermal dysplasia
Health Risk
RS2139090218
Likely pathogenic
Congenital heart defects and ectodermal dysplasia, Congenital heart defects and ectodermal dysplasia
Health Risk
RS2502849610
Likely pathogenic
Congenital heart defects and ectodermal dysplasia, Congenital heart defects and ectodermal dysplasia
Health Risk
RS1057519635
Pathogenic
Congenital heart defects and ectodermal dysplasia, Congenital heart defects and ectodermal dysplasia
Health Risk
RS1057519636
Pathogenic
Congenital heart defects and ectodermal dysplasia, Congenital heart defects and ectodermal dysplasia
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144613015 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145651161 | Health Risk | Conflicting classifications of pathogenicity | Premature ovarian failure, Premature ovarian failure |
| RS147948478 | Health Risk | Conflicting classifications of pathogenicity | PRKD1-related disorder, PRKD1-related disorder |
| RS1880565276 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2139012188 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental delay, Congenital heart defects and ectodermal dysplasia, Neurodevelopmental delay |
| RS541190639 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS776034417 | Health Risk | Conflicting classifications of pathogenicity | Congenital heart defects and ectodermal dysplasia, Congenital heart defects and ectodermal dysplasia |
| RS1439477100 | Health Risk | Likely pathogenic | Congenital heart defects and ectodermal dysplasia, Congenital heart defects and ectodermal dysplasia |
| RS2139090218 | Health Risk | Likely pathogenic | Congenital heart defects and ectodermal dysplasia, Congenital heart defects and ectodermal dysplasia |
| RS2502849610 | Health Risk | Likely pathogenic | Congenital heart defects and ectodermal dysplasia, Congenital heart defects and ectodermal dysplasia |
| RS1057519635 | Health Risk | Pathogenic | Congenital heart defects and ectodermal dysplasia, Congenital heart defects and ectodermal dysplasia |
| RS1057519636 | Health Risk | Pathogenic | Congenital heart defects and ectodermal dysplasia, Congenital heart defects and ectodermal dysplasia |