ZWILCH zwilch kinetochore protein
Gene ID: 55055, updated on 17-Sep-2024Gene type: protein coding
Also known as: KNTC1AP; hZwilch
- See all available tests in GTR for this gene
- Go to complete Gene record for ZWILCH
- Go to Variation Viewer for ZWILCH variants
Summary
Involved in protein localization to kinetochore. Located in kinetochore. Part of RZZ complex. [provided by Alliance of Genome Resources, Apr 2022]
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2019-04-24) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2019-04-24) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 15q22.31
- Sequence:
- Chromosome: 15; NC_000015.10 (66505326..66550130)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ZWILCH 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.