Gene entry
AMER1
APC membrane recruitment protein 1
- Chromosome
- X
- Cytoband
- Xq11.2
- Variants (rsID)
- 7
AMER1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq11.2). Its official name is “APC membrane recruitment protein 1”. The reference table lists 7 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs138948924Benignsingle nucleotide variant
- rs201092215Benignsingle nucleotide variant
- rs138399473Conflicting interpretationssingle nucleotide variantOsteopathia striata with cranial sclerosis
- rs147040794Likely benignsingle nucleotide variant
- rs137852217Pathogenicsingle nucleotide variantOsteopathia striata with cranial sclerosis|Inborn genetic diseases
- rs387906722Pathogenicsingle nucleotide variantOsteopathia striata with cranial sclerosis
- rs398122877PathogenicDeletionOsteopathia striata with cranial sclerosis
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.