Gene entry
B9D2
B9 domain containing 2
- Chromosome
- 19
- Cytoband
- 19q13.2
- Variants (rsID)
- 5
B9D2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19q13.2). Its official name is “B9 domain containing 2”. The reference table lists 5 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs1800469Benignsingle nucleotide variantMeckel-Gruber syndrome|Joubert syndrome
- rs34088631Benignsingle nucleotide variantJoubert syndrome|Meckel-Gruber syndrome
- rs757863670Pathogenicsingle nucleotide variantJoubert syndrome|JOUBERT SYNDROME 34
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.