SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
Gene ID: 23347, updated on 27-Aug-2024Gene type: protein coding
Also known as: BAMS; FSHD2
- See all available tests in GTR for this gene
- Go to complete Gene record for SMCHD1
- Go to Variation Viewer for SMCHD1 variants
Summary
This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Arrhinia with choanal atresia and microphthalmia syndrome | See labs |
| Facioscapulohumeral muscular dystrophy 2 | See labs |
| Genome-wide association study of maternal and inherited loci for conotruncal heart defects. GeneReviews: Not available |
Genomic context
- Location:
- 18p11.32
- Sequence:
- Chromosome: 18; NC_000018.10 (2655726..2805017)
- Total number of exons:
- 51
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SMCHD1 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
- SMCHD1 @ LOVD
- Variation ViewerRelated Variants
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