CCDC171
Chr 9coiled-coil domain containing 171
Also known as: C9orf93, bA536D16.1, bA778P13.1
This gene encodes a coiled-coil domain containing protein whose specific cellular function remains unclear. Mutations cause autosomal recessive sensorineural hearing loss, typically presenting in early childhood. The gene shows minimal constraint against loss-of-function variants, consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
286 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 96 | 0 | 96 |
Likely Pathogenic | 0 | 0 | 6 | 0 | 6 |
VUS | 0 | 154 | 3 | 0 | 157 |
Likely Benign | 0 | 6 | 0 | 1 | 7 |
Benign | 0 | 2 | 0 | 1 | 3 |
| Total | 0 | 162 | 105 | 2 | 269 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CCDC171 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools