C9orf72
Universal Cellular Machinery · Protein Scaffolding & Structural Architecture
Can an ordinary SNP result rule out a C9orf72 repeat expansion?
C9orf72 encodes a protein expressed prominently in neurons, including cells involved in movement. Disease-associated repeat expansions are a distinct kind of genetic change and may require testing designed to detect them.
- Common Gene Name
- C9orf72-SMCR8 complex subunit
- NCBI Gene ID
- 203228
- Chromosome
- 9
Clinical Evidence Status
Established disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (2 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | ClinGen gene-disease validity | Definitive | Autosomal dominant | View source 2021-09-21 |
| Amyotrophic lateral sclerosis | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2016-02 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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