ROS1 Chromosome 6
ROS proto-oncogene 1, receptor tyrosine kinase
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What This Gene Does
This proto-oncogene, highly-expressed in a variety of tumor cell lines, belongs to the sevenless subfamily of tyrosine kinase insulin receptor genes. The protein encoded by this gene is a type I integral membrane protein with tyrosine kinase activity. The protein may function as a growth or differentiation factor receptor. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Receptor tyrosine kinases|Fibronectin type III domain containing"
Locus Type
gene with protein product
Location
6q22.1
Ensembl
ENSG00000047936
Associated Conditions (6)
Abnormal brain morphology
Ovarian serous cystadenocarcinoma
ROS1-related disorder
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Lung adenocarcinoma
Short stature
Key Variants
RS115286894
Conflicting classifications of pathogenicity
Health Risk
RS199882276
Conflicting classifications of pathogenicity
Health Risk
RS61743088
Conflicting classifications of pathogenicity
Abnormal brain morphology, Ovarian serous cystadenocarcinoma, ROS1-related disorder
Health Risk
RS1257346590
Likely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
RS35302901
Likely pathogenic
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
Health Risk
RS1057519788
Pathogenic
Lung adenocarcinoma, Lung adenocarcinoma
Health Risk
RS151330473
Pathogenic
Lung adenocarcinoma, Lung adenocarcinoma
Health Risk
RS776274768
Pathogenic
Short stature, Short stature
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS115286894 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199882276 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61743088 | Health Risk | Conflicting classifications of pathogenicity | Abnormal brain morphology, Ovarian serous cystadenocarcinoma, ROS1-related disorder |
| RS1257346590 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS35302901 | Health Risk | Likely pathogenic | Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS1057519788 | Health Risk | Pathogenic | Lung adenocarcinoma, Lung adenocarcinoma |
| RS151330473 | Health Risk | Pathogenic | Lung adenocarcinoma, Lung adenocarcinoma |
| RS776274768 | Health Risk | Pathogenic | Short stature, Short stature |