Gene entry
AFF4
ALF transcription elongation factor 4
- Chromosome
- 5
- Cytoband
- 5q31.1
- Variants (rsID)
- 8
AFF4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5q31.1). Its official name is “ALF transcription elongation factor 4”. The reference table lists 8 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs188073736Likely benignsingle nucleotide variantCognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
- rs786205680Pathogenicsingle nucleotide variantCognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
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.