Gene entry
GDF6
growth differentiation factor 6
- Chromosome
- 8
- Cytoband
- 8q22.1
- Variants (rsID)
- 6
GDF6 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8q22.1). Its official name is “growth differentiation factor 6”. The reference table lists 6 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs63751220Conflicting interpretationssingle nucleotide variantKlippel-Feil syndrome 1, autosomal dominant|Klippel-Feil syndrome 1, autosomal dominant|Leber congenital amaurosis 17|Isolated microphthalmia 4|Microphthalmia, isolated, with coloboma 6
- rs121909353Likely benignsingle nucleotide variantKlippel-Feil syndrome 1, autosomal dominant|Klippel-Feil syndrome|Klippel-Feil syndrome 1, autosomal dominant|Autosomal dominant Parkinson disease 8|Klippel-Feil syndrome 1, autosomal dominant|Leber congenital amaurosis 17|Isolated microphthalmia 4|Microphthalmia, isolated, with coloboma 6
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.