VWA8 von Willebrand factor A domain containing 8
Gene ID: 23078, updated on 2-Nov-2024Gene type: protein coding
Also known as: RP97; P7BP2; KIAA0564
- See all available tests in GTR for this gene
- Go to complete Gene record for VWA8
- Go to Variation Viewer for VWA8 variants
Summary
Predicted to enable ATP hydrolysis activity. Located in mitochondrion and peroxisome. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns. GeneReviews: Not available | |
| Genome-wide association study of ancestry-specific TB risk in the South African Coloured population. GeneReviews: Not available | |
| Retinitis pigmentosa 97 | not available |
Genomic context
- Location:
- 13q14.11
- Sequence:
- Chromosome: 13; NC_000013.11 (41566835..41961109, complement)
- Total number of exons:
- 45
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for VWA8 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
- Variation ViewerRelated Variants
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