RIT1 Chromosome 1
Ras like without CAAX 1
Upload your DNA to see your personal genotypes for variants in RIT1.
What This Gene Does
This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
Gene Info
Gene Group
RAS type GTPase family
Locus Type
gene with protein product
Location
1q22
Ensembl
ENSG00000143622
Associated Conditions (18)
Noonan syndrome 8
Cardiovascular phenotype
Noonan syndrome and Noonan-related syndrome
RIT1-related disorder
Noonan syndrome 1
Noonan syndrome
RASopathy
Non-immune hydrops fetalis
Inborn genetic diseases
Congenital heart disease
Sarcoma
Hypertelorism
Pedal edema
Short stature
Downslanted palpebral fissures
Megalencephaly-capillary malformation-polymicrogyria syndrome
Neoplasm
Melanoma
Key Variants
RS1177306699
Conflicting classifications of pathogenicity
Noonan syndrome 8, Cardiovascular phenotype, Noonan syndrome 8
Health Risk
RS1333491071
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Noonan syndrome 8, Cardiovascular phenotype
Health Risk
RS1442986615
Conflicting classifications of pathogenicity
Noonan syndrome 8, Noonan syndrome 8
Health Risk
RS145034964
Conflicting classifications of pathogenicity
Noonan syndrome and Noonan-related syndrome, Noonan syndrome 8, Cardiovascular phenotype
Health Risk
RS1474550449
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Noonan syndrome 8, Cardiovascular phenotype
Health Risk
RS1557962699
Conflicting classifications of pathogenicity
Noonan syndrome 8, Noonan syndrome 1, Noonan syndrome 8
Health Risk
RS1673288090
Conflicting classifications of pathogenicity
Noonan syndrome 8, Cardiovascular phenotype, Noonan syndrome 8
Health Risk
RS2102590945
Conflicting classifications of pathogenicity
Noonan syndrome 8, Noonan syndrome 8
Health Risk
RS2102590960
Conflicting classifications of pathogenicity
Noonan syndrome, Noonan syndrome 8, Noonan syndrome 8
Health Risk
RS370396152
Conflicting classifications of pathogenicity
Noonan syndrome 8, Noonan syndrome 8
Health Risk
RS372170139
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Noonan syndrome 8, Cardiovascular phenotype
Health Risk
RS545031201
Conflicting classifications of pathogenicity
Noonan syndrome 8, Cardiovascular phenotype, Noonan syndrome 8
Health Risk
All Variants (41)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1177306699 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 8, Cardiovascular phenotype, Noonan syndrome 8 |
| RS1333491071 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Noonan syndrome 8, Cardiovascular phenotype |
| RS1442986615 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 8, Noonan syndrome 8 |
| RS145034964 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome and Noonan-related syndrome, Noonan syndrome 8, Cardiovascular phenotype |
| RS1474550449 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Noonan syndrome 8, Cardiovascular phenotype |
| RS1557962699 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 8, Noonan syndrome 1, Noonan syndrome 8 |
| RS1673288090 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 8, Cardiovascular phenotype, Noonan syndrome 8 |
| RS2102590945 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 8, Noonan syndrome 8 |
| RS2102590960 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome, Noonan syndrome 8, Noonan syndrome 8 |
| RS370396152 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 8, Noonan syndrome 8 |
| RS372170139 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Noonan syndrome 8, Cardiovascular phenotype |
| RS545031201 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 8, Cardiovascular phenotype, Noonan syndrome 8 |
| RS563231684 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 8, Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype |
| RS730881012 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 8, Noonan syndrome 8 |
| RS748838734 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome and Noonan-related syndrome, Noonan syndrome 8, Cardiovascular phenotype |
| RS754596127 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 8, Cardiovascular phenotype, Noonan syndrome 8 |
| RS766063111 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 8, Cardiovascular phenotype, Noonan syndrome 8 |
| RS767498196 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 8, Cardiovascular phenotype, Noonan syndrome 8 |
| RS977405637 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome 8, Noonan syndrome 8 |
| RS1557960039 | Health Risk | Likely pathogenic | Noonan syndrome 8, Noonan syndrome, Noonan syndrome and Noonan-related syndrome |
| RS1673398956 | Health Risk | Likely pathogenic | Noonan syndrome, Noonan syndrome 8, Noonan syndrome |
| RS886041414 | Health Risk | Likely pathogenic | Noonan syndrome 8, Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype |
| RS1557962794 | Health Risk | Pathogenic | Noonan syndrome 8, Noonan syndrome 1, Noonan syndrome 8 |
| RS2102584825 | Health Risk | Pathogenic | Non-immune hydrops fetalis, Non-immune hydrops fetalis |
| RS483352822 | Health Risk | Pathogenic | Noonan syndrome 8, Noonan syndrome, Noonan syndrome and Noonan-related syndrome |
| RS672601334 | Health Risk | Pathogenic | Noonan syndrome 8, Noonan syndrome, Noonan syndrome 1 |
| RS672601335 | Health Risk | Pathogenic | Noonan syndrome 8, Noonan syndrome, RASopathy |
| RS730881014 | Health Risk | Pathogenic | Noonan syndrome 8, Noonan syndrome, RASopathy |
| RS868208063 | Health Risk | Pathogenic | Noonan syndrome 8, RIT1-related disorder, RASopathy |
| RS869025189 | Health Risk | Pathogenic | Noonan syndrome, Noonan syndrome 8, RASopathy |
| RS869025191 | Health Risk | Pathogenic | Noonan syndrome, Noonan syndrome 8, Noonan syndrome 1 |
| RS869025194 | Health Risk | Pathogenic | Noonan syndrome 8, Noonan syndrome, RASopathy |
| RS869025195 | Health Risk | Pathogenic | Noonan syndrome, Inborn genetic diseases, Noonan syndrome 1 |
| RS869025197 | Health Risk | Pathogenic | Noonan syndrome, Noonan syndrome 8, Noonan syndrome and Noonan-related syndrome |
| RS869312687 | Health Risk | Pathogenic | Noonan syndrome 8, Hypertelorism, Pedal edema |
| RS1571999498 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome 1, Noonan syndrome 8, RIT1-related disorder |
| RS1673399238 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome 8, Cardiovascular phenotype, Noonan syndrome 8 |
| RS777520196 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome 8, Noonan syndrome and Noonan-related syndrome, Megalencephaly-capillary malformation-polymicrogyria syndrome |
| RS869025192 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome, Neoplasm, Melanoma |
| RS869025193 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome 8, Noonan syndrome, RASopathy |
| RS869025196 | Health Risk | Pathogenic/Likely pathogenic | Noonan syndrome, Noonan syndrome 8, Cardiovascular phenotype |