RINT1 Chromosome 7
RAD50 interactor 1
Upload your DNA to see your personal genotypes for variants in RINT1.
What This Gene Does
This gene encodes a protein first identified for its ability to interact with the RAD50 double strand break repair protein, with the resulting interaction implicated in the regulation of cell cycle progression and telomere length. The encoded protein may also play a role in trafficking of cellular cargo from the endosome to the trans-Golgi network. Mutations in this gene may be associated with breast cancer in human patients. [provided by RefSeq, Oct 2016]
Gene Info
Gene Group
NRZ tethering complex
Locus Type
gene with protein product
Location
7q22.3
Ensembl
ENSG00000135249
Associated Conditions (8)
Infantile liver failure syndrome 3
Thyroid cancer
nonmedullary
1
Hereditary breast ovarian cancer syndrome
RINT1-related disorder
Fulminant hepatic failure
Familial ovarian cancer
Key Variants
RS1017536954
Conflicting classifications of pathogenicity
Health Risk
RS1301146115
Conflicting classifications of pathogenicity
Infantile liver failure syndrome 3, Infantile liver failure syndrome 3
Health Risk
RS1350432366
Conflicting classifications of pathogenicity
Health Risk
RS1352349454
Conflicting classifications of pathogenicity
Health Risk
RS138345617
Conflicting classifications of pathogenicity
Infantile liver failure syndrome 3, Infantile liver failure syndrome 3
Health Risk
RS139214585
Conflicting classifications of pathogenicity
Health Risk
RS1414090114
Conflicting classifications of pathogenicity
Health Risk
RS144994876
Conflicting classifications of pathogenicity
Health Risk
RS144996870
Conflicting classifications of pathogenicity
Health Risk
RS145688388
Conflicting classifications of pathogenicity
Health Risk
RS151055286
Conflicting classifications of pathogenicity
Thyroid cancer, nonmedullary, 1
Health Risk
RS1562853874
Conflicting classifications of pathogenicity
Health Risk
All Variants (93)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS778784751 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779952771 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780062646 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780699445 | Health Risk | Conflicting classifications of pathogenicity | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS866948739 | Health Risk | Conflicting classifications of pathogenicity | Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome |
| RS869312981 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS928088575 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS961084109 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS987417898 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS988368046 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1042754408 | Health Risk | Likely pathogenic | — |
| RS1373493567 | Health Risk | Likely pathogenic | — |
| RS1790506980 | Health Risk | Likely pathogenic | — |
| RS1790704642 | Health Risk | Likely pathogenic | — |
| RS1790781071 | Health Risk | Likely pathogenic | — |
| RS1790935805 | Health Risk | Likely pathogenic | — |
| RS200989342 | Health Risk | Likely pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS2133400946 | Health Risk | Likely pathogenic | — |
| RS2133427390 | Health Risk | Likely pathogenic | — |
| RS2485113260 | Health Risk | Likely pathogenic | — |
| RS2485176623 | Health Risk | Likely pathogenic | — |
| RS1293925787 | Health Risk | Pathogenic | — |
| RS1421126665 | Health Risk | Pathogenic | — |
| RS1423003209 | Health Risk | Pathogenic | RINT1-related disorder, RINT1-related disorder, RINT1-related disorder |
| RS143184349 | Health Risk | Pathogenic | — |
| RS1460614597 | Health Risk | Pathogenic | — |
| RS1554363883 | Health Risk | Pathogenic | — |
| RS1562849964 | Health Risk | Pathogenic | Fulminant hepatic failure, Infantile liver failure syndrome 3, Fulminant hepatic failure |
| RS1790785997 | Health Risk | Pathogenic | — |
| RS1791561360 | Health Risk | Pathogenic | — |
| RS1791668026 | Health Risk | Pathogenic | — |
| RS1791672042 | Health Risk | Pathogenic | — |
| RS2133373175 | Health Risk | Pathogenic | — |
| RS2133373241 | Health Risk | Pathogenic | — |
| RS2133463883 | Health Risk | Pathogenic | — |
| RS2133477788 | Health Risk | Pathogenic | — |
| RS2133479924 | Health Risk | Pathogenic | — |
| RS2485099555 | Health Risk | Pathogenic | — |
| RS2485123020 | Health Risk | Pathogenic | — |
| RS2485133677 | Health Risk | Pathogenic | — |
| RS2485149361 | Health Risk | Pathogenic | — |
| RS375350359 | Health Risk | Pathogenic | Fulminant hepatic failure, Infantile liver failure syndrome 3, Familial ovarian cancer |
| RS754649826 | Health Risk | Pathogenic | — |