GRIP1 Chromosome 12
Glutamate receptor interacting protein 1
Upload your DNA to see your personal genotypes for variants in GRIP1.
What This Gene Does
This gene encodes a member of the glutamate receptor interacting protein family. The encoded scaffold protein binds to and mediates the trafficking and membrane organization of a number of transmembrane proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, May 2010]
Gene Info
Gene Group
PDZ domain containing
Locus Type
gene with protein product
Location
12q14.3
Ensembl
ENSG00000155974
Associated Conditions (8)
Fraser syndrome 3
Intellectual disability
Colorectal cancer
Melanoma
Inborn genetic diseases
GRIP1-related disorder
Abnormal brain morphology
Fraser syndrome 1
Key Variants
RS111776176
Conflicting classifications of pathogenicity
Fraser syndrome 3, Fraser syndrome 3
Health Risk
RS1300664235
Conflicting classifications of pathogenicity
Fraser syndrome 3, Fraser syndrome 3
Health Risk
RS138258055
Conflicting classifications of pathogenicity
Fraser syndrome 3, Fraser syndrome 3
Health Risk
RS144494437
Conflicting classifications of pathogenicity
Fraser syndrome 3, Intellectual disability, Colorectal cancer
Health Risk
RS181365280
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS187691546
Conflicting classifications of pathogenicity
GRIP1-related disorder, GRIP1-related disorder
Health Risk
RS189438534
Conflicting classifications of pathogenicity
Fraser syndrome 3, GRIP1-related disorder, Fraser syndrome 3
Health Risk
RS199768740
Conflicting classifications of pathogenicity
Abnormal brain morphology, Fraser syndrome 3, Abnormal brain morphology
Health Risk
RS199812266
Conflicting classifications of pathogenicity
GRIP1-related disorder, Inborn genetic diseases, GRIP1-related disorder
Health Risk
RS200363939
Conflicting classifications of pathogenicity
Inborn genetic diseases, Fraser syndrome 3, Inborn genetic diseases
Health Risk
RS201410285
Conflicting classifications of pathogenicity
Fraser syndrome 3, Inborn genetic diseases, Fraser syndrome 3
Health Risk
RS201867922
Conflicting classifications of pathogenicity
Fraser syndrome 3, GRIP1-related disorder, Fraser syndrome 3
Health Risk
All Variants (43)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111776176 | Health Risk | Conflicting classifications of pathogenicity | Fraser syndrome 3, Fraser syndrome 3 |
| RS1300664235 | Health Risk | Conflicting classifications of pathogenicity | Fraser syndrome 3, Fraser syndrome 3 |
| RS138258055 | Health Risk | Conflicting classifications of pathogenicity | Fraser syndrome 3, Fraser syndrome 3 |
| RS144494437 | Health Risk | Conflicting classifications of pathogenicity | Fraser syndrome 3, Intellectual disability, Colorectal cancer |
| RS181365280 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS187691546 | Health Risk | Conflicting classifications of pathogenicity | GRIP1-related disorder, GRIP1-related disorder |
| RS189438534 | Health Risk | Conflicting classifications of pathogenicity | Fraser syndrome 3, GRIP1-related disorder, Fraser syndrome 3 |
| RS199768740 | Health Risk | Conflicting classifications of pathogenicity | Abnormal brain morphology, Fraser syndrome 3, Abnormal brain morphology |
| RS199812266 | Health Risk | Conflicting classifications of pathogenicity | GRIP1-related disorder, Inborn genetic diseases, GRIP1-related disorder |
| RS200363939 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Fraser syndrome 3, Inborn genetic diseases |
| RS201410285 | Health Risk | Conflicting classifications of pathogenicity | Fraser syndrome 3, Inborn genetic diseases, Fraser syndrome 3 |
| RS201867922 | Health Risk | Conflicting classifications of pathogenicity | Fraser syndrome 3, GRIP1-related disorder, Fraser syndrome 3 |
| RS202009431 | Health Risk | Conflicting classifications of pathogenicity | Fraser syndrome 3, Fraser syndrome 3 |
| RS2055525326 | Health Risk | Conflicting classifications of pathogenicity | Fraser syndrome 3, Fraser syndrome 3 |
| RS2061387927 | Health Risk | Conflicting classifications of pathogenicity | Fraser syndrome 3, Fraser syndrome 3 |
| RS2500513293 | Health Risk | Conflicting classifications of pathogenicity | Fraser syndrome 3, Fraser syndrome 3 |
| RS371224677 | Health Risk | Conflicting classifications of pathogenicity | Fraser syndrome 3, Fraser syndrome 3 |
| RS372970620 | Health Risk | Conflicting classifications of pathogenicity | Fraser syndrome 3, Fraser syndrome 3 |
| RS539858835 | Health Risk | Conflicting classifications of pathogenicity | Fraser syndrome 3, Fraser syndrome 3 |
| RS558365010 | Health Risk | Conflicting classifications of pathogenicity | Fraser syndrome 3, Fraser syndrome 3 |
| RS568959118 | Health Risk | Conflicting classifications of pathogenicity | Fraser syndrome 3, Fraser syndrome 3 |
| RS760613522 | Health Risk | Conflicting classifications of pathogenicity | Fraser syndrome 3, Fraser syndrome 3 |
| RS886049798 | Health Risk | Conflicting classifications of pathogenicity | Fraser syndrome 3, Fraser syndrome 3 |
| RS886049799 | Health Risk | Conflicting classifications of pathogenicity | Fraser syndrome 3, Fraser syndrome 3 |
| RS1060499774 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |
| RS1565756770 | Health Risk | Likely pathogenic | Fraser syndrome 3, Fraser syndrome 3 |
| RS2500345300 | Health Risk | Likely pathogenic | — |
| RS2502070958 | Health Risk | Likely pathogenic | — |
| RS2502472725 | Health Risk | Likely pathogenic | — |
| RS2504100355 | Health Risk | Likely pathogenic | Fraser syndrome 1, Fraser syndrome 1 |
| RS772813442 | Health Risk | Likely pathogenic | Fraser syndrome 1, Fraser syndrome 1 |
| RS1452438437 | Health Risk | Pathogenic | — |
| RS2055816762 | Health Risk | Pathogenic | — |
| RS2057189303 | Health Risk | Pathogenic | Fraser syndrome 3, Fraser syndrome 3 |
| RS2499785368 | Health Risk | Pathogenic | — |
| RS2499836372 | Health Risk | Pathogenic | — |
| RS2500674714 | Health Risk | Pathogenic | — |
| RS2502070822 | Health Risk | Pathogenic | — |
| RS2502285451 | Health Risk | Pathogenic | — |
| RS397514485 | Health Risk | Pathogenic | Fraser syndrome 3, Fraser syndrome 3 |
| RS397514486 | Health Risk | Pathogenic | Fraser syndrome 3, Fraser syndrome 3 |
| RS765203751 | Health Risk | Pathogenic | — |
| RS758192469 | Health Risk | Pathogenic/Likely pathogenic | Fraser syndrome 3, Fraser syndrome 3 |