Gene entry
GDF5
growth differentiation factor 5
- Chromosome
- 20
- Cytoband
- 20q11.22
- Variants (rsID)
- 9
GDF5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 20 (region 20q11.22). Its official name is “growth differentiation factor 5”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs114550865Benignsingle nucleotide variant
- rs143383Benignsingle nucleotide variantOsteoarthritis of hip|Grebe syndrome|Acromesomelic dysplasia 2C, Hunter-Thompson type|Multiple synostoses syndrome 2|Acromesomelic dysplasia 2B|Brachydactyly
- rs143384Benignsingle nucleotide variantGrebe syndrome|Brachydactyly|Multiple synostoses syndrome 2|Acromesomelic dysplasia 2B|Acromesomelic dysplasia 2C, Hunter-Thompson type
- rs56366915Benignsingle nucleotide variantGrebe syndrome|Acromesomelic dysplasia 2B|Brachydactyly|Multiple synostoses syndrome 2|Acromesomelic dysplasia 2C, Hunter-Thompson type
- rs61754581Benignsingle nucleotide variantBrachydactyly|Acromesomelic dysplasia 2B|Grebe syndrome|Multiple synostoses syndrome 2|Acromesomelic dysplasia 2C, Hunter-Thompson type
- rs73094730Benignsingle nucleotide variantBrachydactyly|Acromesomelic dysplasia 2B|Grebe syndrome|Multiple synostoses syndrome 2|Acromesomelic dysplasia 2C, Hunter-Thompson type
- rs28936397Pathogenicsingle nucleotide variantBrachydactyly type C
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.