Gene entry
DDHD2
DDHD domain containing 2
- Chromosome
- 8
- Cytoband
- 8p11.23
- Variants (rsID)
- 8
DDHD2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 8 (region 8p11.23). Its official name is “DDHD domain containing 2”. The reference table lists 8 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs148536791Benignsingle nucleotide variantHereditary spastic paraplegia 54|Hereditary spastic paraplegia
- rs375168720Pathogenicsingle nucleotide variantHereditary spastic paraplegia 54|Generalized epilepsy|Global developmental delay|Obesity|Hereditary spastic paraplegia
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.