Gene entry
SMC1A
structural maintenance of chromosomes 1A
- Chromosome
- X
- Cytoband
- Xp11.22
- Variants (rsID)
- 7
SMC1A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp11.22). Its official name is “structural maintenance of chromosomes 1A”. The reference table lists 7 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs144354524Conflicting interpretationssingle nucleotide variantCongenital muscular hypertrophy-cerebral syndrome
- rs377270943Conflicting interpretationssingle nucleotide variantCongenital muscular hypertrophy-cerebral syndrome|History of neurodevelopmental disorder
- rs387906702Pathogenicsingle nucleotide variantCongenital muscular hypertrophy-cerebral syndrome|Inborn genetic diseases
- rs727503773PathogenicMicrosatelliteCongenital muscular hypertrophy-cerebral syndrome|6 conditions
- rs863225458PathogenicDeletionCongenital muscular hypertrophy-cerebral syndrome|Developmental and epileptic encephalopathy, 85, with or without midline brain defects
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.