B9D1 B9 domain containing 1
Gene ID: 27077, updated on 2-Nov-2024Gene type: protein coding
Also known as: B9; MKS9; EPPB9; MKSR1; JBTS27; MKSR-1
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- Go to complete Gene record for B9D1
- Go to Variation Viewer for B9D1 variants
Summary
This gene encodes a B9 domain-containing protein, one of several that are involved in ciliogenesis. Alterations in expression of this gene have been found in a family with Meckel syndrome. Meckel syndrome has been associated with at least six different genes. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Mar 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Joubert syndrome 27 | See labs |
| Meckel syndrome, type 9 | See labs |
Genomic context
- Location:
- 17p11.2
- Sequence:
- Chromosome: 17; NC_000017.11 (19334695..19377913, 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 B9D1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- B9D1 @ LOVD
- 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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