Gene entry
EXOSC3
exosome component 3
- Chromosome
- 9
- Cytoband
- 9p13.2
- Variants (rsID)
- 6
EXOSC3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9p13.2). Its official name is “exosome component 3”. The reference table lists 6 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs3208406Benignsingle nucleotide variantPontocerebellar hypoplasia type 1B
- rs148348866Conflicting interpretationssingle nucleotide variantPontocerebellar hypoplasia type 1B
- rs373191549Conflicting interpretationssingle nucleotide variantPontocerebellar hypoplasia type 1B
- rs141138948Pathogenicsingle nucleotide variantPontocerebellar hypoplasia type 1B|Inborn genetic diseases|Hypotonia|Abnormality of the nervous system
- rs374550999Pathogenicsingle nucleotide variantPontocerebellar hypoplasia type 1B|Pontoneocerebellar hypoplasia
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.