AHDC1 AT-hook DNA binding motif containing 1
Gene ID: 27245, updated on 28-Oct-2024Gene type: protein coding
Also known as: MRD25; XIGIS
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- Go to complete Gene record for AHDC1
- Go to Variation Viewer for AHDC1 variants
Summary
This gene encodes a protein containing two AT-hooks, which likely function in DNA binding. Mutations in this gene were found in individuals with Xia-Gibbs syndrome. [provided by RefSeq, Jun 2014]
Associated conditions
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2018-02-28) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2018-02-28) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 1p36.11-p35.3
- Sequence:
- Chromosome: 1; NC_000001.11 (27534245..27604227, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AHDC1 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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