RPGRIP1 RPGR interacting protein 1
Gene ID: 57096, updated on 3-Apr-2024Gene type: protein coding
Also known as: LCA6; RGI1; RGRIP; CORD13; RPGRIP; RPGRIP1d
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- Go to complete Gene record for RPGRIP1
- Go to Variation Viewer for RPGRIP1 variants
Summary
This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cone-rod dystrophy 13 | See labs |
| Leber congenital amaurosis 6 MedGen: C1854260OMIM: 613826GeneReviews: Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview | See labs |
Genomic context
- Location:
- 14q11.2
- Sequence:
- Chromosome: 14; NC_000014.9 (21280083..21351301)
- Total number of exons:
- 26
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RPGRIP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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