Gene entry
SMCHD1
structural maintenance of chromosomes flexible hinge domain containing 1
- Chromosome
- 18
- Cytoband
- 18p11.32
- Variants (rsID)
- 23
SMCHD1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 18 (region 18p11.32). Its official name is “structural maintenance of chromosomes flexible hinge domain containing 1”. The reference table lists 23 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs2276092Benignsingle nucleotide variantFacioscapulohumeral muscular dystrophy 2|Arrhinia with choanal atresia and microphthalmia syndrome
- rs146798599Conflicting interpretationssingle nucleotide variantFacioscapulohumeral muscular dystrophy 2
- rs151311806Conflicting interpretationssingle nucleotide variantFacioscapulohumeral muscular dystrophy 2
- rs201466122Conflicting interpretationssingle nucleotide variantFacioscapulohumeral muscular dystrophy 2
- rs201631086Conflicting interpretationssingle nucleotide variantFacioscapulohumeral muscular dystrophy 2
- rs72862973Conflicting interpretationssingle nucleotide variantFacioscapulohumeral muscular dystrophy 2
- rs757300247Conflicting interpretationssingle nucleotide variant
- rs76290319Conflicting interpretationssingle nucleotide variantFacioscapulohumeral muscular dystrophy 2
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.