LRRK1 Chromosome 15
Leucine rich repeat kinase 1
Upload your DNA to see your personal genotypes for variants in LRRK1.
What This Gene Does
This gene encodes a multi-domain protein that is a leucine-rich repeat kinase and a GDP/GTP binding protein. The encoded protein is thought to play a role in the regulation of bone mass. Mice lacking a similar gene showed severe osteopetrosis, increased bone mineralization and decreased bone resorption. [provided by RefSeq, Jan 2017]
Gene Info
Gene Group
"ROCO family|Leucine rich repeat kinase family"
Locus Type
gene with protein product
Location
15q26.3
Ensembl
ENSG00000154237
Associated Conditions (3)
Inborn genetic diseases
LRRK1-related disorder
Osteosclerotic metaphyseal dysplasia
Key Variants
RS113989128
Conflicting classifications of pathogenicity
Inborn genetic diseases, LRRK1-related disorder, Inborn genetic diseases
Health Risk
RS1293448832
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145072406
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200548454
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200799740
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS377202593
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS536752090
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS539691388
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS564175632
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS751191439
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS753519057
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS776656740
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113989128 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, LRRK1-related disorder, Inborn genetic diseases |
| RS1293448832 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145072406 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200548454 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200799740 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS377202593 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS536752090 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS539691388 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS564175632 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS751191439 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS753519057 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS776656740 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779170016 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS915826670 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS55966303 | Health Risk | Likely pathogenic | — |
| RS747930349 | Health Risk | Likely pathogenic | — |
| RS1258583719 | Health Risk | Pathogenic | Osteosclerotic metaphyseal dysplasia, Osteosclerotic metaphyseal dysplasia |
| RS1342350922 | Health Risk | Pathogenic | — |
| RS2035295556 | Health Risk | Pathogenic | — |
| RS2036471632 | Health Risk | Pathogenic | — |
| RS2141133179 | Health Risk | Pathogenic | — |
| RS2141168796 | Health Risk | Pathogenic | Osteosclerotic metaphyseal dysplasia, Osteosclerotic metaphyseal dysplasia |
| RS2141653795 | Health Risk | Pathogenic | Osteosclerotic metaphyseal dysplasia, Osteosclerotic metaphyseal dysplasia |
| RS2141693825 | Health Risk | Pathogenic | — |
| RS2496857977 | Health Risk | Pathogenic | — |
| RS2505433946 | Health Risk | Pathogenic | — |
| RS2505449670 | Health Risk | Pathogenic | — |
| RS2505469619 | Health Risk | Pathogenic | — |
| RS2505745149 | Health Risk | Pathogenic | — |
| RS766875506 | Health Risk | Pathogenic | Osteosclerotic metaphyseal dysplasia, Osteosclerotic metaphyseal dysplasia |
| RS886038213 | Health Risk | Pathogenic | Osteosclerotic metaphyseal dysplasia, Osteosclerotic metaphyseal dysplasia |