Gene entry
BICD2
BICD cargo adaptor 2
- Chromosome
- 9
- Cytoband
- 9q22.31
- Variants (rsID)
- 9
BICD2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q22.31). Its official name is “BICD cargo adaptor 2”. The reference table lists 9 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs192669216Conflicting interpretationssingle nucleotide variantAutosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
- rs200325192Likely benignsingle nucleotide variantAutosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
- rs371707778Pathogenicsingle nucleotide variantAutosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
- rs398123030Pathogenicsingle nucleotide variantAutosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
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.