ARHGEF18 Chromosome 19
Rho/Rac guanine nucleotide exchange factor 18
Upload your DNA to see your personal genotypes for variants in ARHGEF18.
What This Gene Does
Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GEF family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2018]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Dbl family Rho GEFs"
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000104880
Associated Conditions (5)
Inborn genetic diseases
ARHGEF18-related disorder
Retinal dystrophy
Thymoma
Retinitis pigmentosa 78
Key Variants
RS1050542397
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS115555106
Conflicting classifications of pathogenicity
Inborn genetic diseases, ARHGEF18-related disorder, Inborn genetic diseases
Health Risk
RS116148705
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140494987
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146702874
Conflicting classifications of pathogenicity
Retinal dystrophy, Inborn genetic diseases, Retinal dystrophy
Health Risk
RS150370217
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150442510
Conflicting classifications of pathogenicity
Inborn genetic diseases, Thymoma, Inborn genetic diseases
Health Risk
RS180746700
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199567237
Conflicting classifications of pathogenicity
ARHGEF18-related disorder, Inborn genetic diseases, ARHGEF18-related disorder
Health Risk
RS368141054
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS374950645
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS531485198
Conflicting classifications of pathogenicity
ARHGEF18-related disorder, Inborn genetic diseases, ARHGEF18-related disorder
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1050542397 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS115555106 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ARHGEF18-related disorder, Inborn genetic diseases |
| RS116148705 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS140494987 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146702874 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Inborn genetic diseases, Retinal dystrophy |
| RS150370217 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150442510 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Thymoma, Inborn genetic diseases |
| RS180746700 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199567237 | Health Risk | Conflicting classifications of pathogenicity | ARHGEF18-related disorder, Inborn genetic diseases, ARHGEF18-related disorder |
| RS368141054 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374950645 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS531485198 | Health Risk | Conflicting classifications of pathogenicity | ARHGEF18-related disorder, Inborn genetic diseases, ARHGEF18-related disorder |
| RS534187677 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS555008215 | Health Risk | Conflicting classifications of pathogenicity | ARHGEF18-related disorder, Inborn genetic diseases, ARHGEF18-related disorder |
| RS567018549 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS567452162 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS777373247 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS955776981 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 78, Retinitis pigmentosa 78 |
| RS201797784 | Health Risk | Likely pathogenic | Retinitis pigmentosa 78, Retinal dystrophy, Retinitis pigmentosa 78 |
| RS987233144 | Health Risk | Likely pathogenic | Retinitis pigmentosa 78, Retinitis pigmentosa 78 |
| RS1025337841 | Health Risk | Pathogenic | — |
| RS1064793000 | Health Risk | Pathogenic | Retinitis pigmentosa 78, Retinitis pigmentosa 78 |
| RS1064793001 | Health Risk | Pathogenic | Retinitis pigmentosa 78, Retinitis pigmentosa 78 |
| RS1353606328 | Health Risk | Pathogenic | — |
| RS1446982305 | Health Risk | Pathogenic | — |
| RS1974567691 | Health Risk | Pathogenic | — |
| RS1974868088 | Health Risk | Pathogenic | — |
| RS1976849780 | Health Risk | Pathogenic | — |
| RS2145910842 | Health Risk | Pathogenic | — |
| RS2145912242 | Health Risk | Pathogenic | — |
| RS2512273417 | Health Risk | Pathogenic | — |
| RS2512328575 | Health Risk | Pathogenic | — |
| RS2512328838 | Health Risk | Pathogenic | — |
| RS2512358919 | Health Risk | Pathogenic | — |
| RS2512446194 | Health Risk | Pathogenic | — |
| RS753598640 | Health Risk | Pathogenic | — |
| RS767689418 | Health Risk | Pathogenic | Retinitis pigmentosa 78, Retinitis pigmentosa 78 |
| RS769056840 | Health Risk | Pathogenic | — |
| RS1064793002 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa 78, Retinitis pigmentosa 78 |