RSPH14 radial spoke head 14 homolog
Gene ID: 27156, updated on 19-Sep-2024Gene type: protein coding
Also known as: RTDR1
- See all available tests in GTR for this gene
- Go to complete Gene record for RSPH14
- Go to Variation Viewer for RSPH14 variants
Summary
This gene encodes a protein with no known function but with slight similarity to a yeast vacuolar protein. The gene is located in a region deleted in pediatric rhabdoid tumors of the brain, kidney and soft tissues, but mutations in this gene have not been associated with the disease. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. GeneReviews: Not available |
Genomic context
- Location:
- 22q11.22-q11.23
- Sequence:
- Chromosome: 22; NC_000022.11 (23059415..23180729, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RSPH14 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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