Gene entry
C1QTNF3-AMACR
C1QTNF3-AMACR readthrough (NMD candidate)
- Chromosome
- 5
- Cytoband
- 5p13.2
- Variants (rsID)
- 2
C1QTNF3-AMACR is a non-coding RNA gene, which produces an RNA molecule that helps regulate other genes instead of building a protein, located on chromosome 5 (region 5p13.2). Its official name is “C1QTNF3-AMACR readthrough (NMD candidate)”. The reference table lists 2 variants (rsID) for this gene.
Clinically classified variants
1 reference-table entries with clinical significance.
- rs2278008Benignsingle nucleotide variantAlpha-methylacyl-CoA racemase deficiency|Oculocutaneous albinism|Congenital bile acid synthesis defect 4
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.
