PKHD1L1 PKHD1 like 1
Gene ID: 93035, updated on 18-Sep-2024Gene type: protein coding
Also known as: PKHDL1; DFNB124
- See all available tests in GTR for this gene
- Go to complete Gene record for PKHD1L1
- Go to Variation Viewer for PKHD1L1 variants
Summary
Predicted to act upstream of or within sensory perception of sound. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Genomic context
- Location:
- 8q23.1-q23.2
- Sequence:
- Chromosome: 8; NC_000008.11 (109362461..109537207)
- Total number of exons:
- 79
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PKHD1L1 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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