PKHD1L1
Chr 8ARPKHD1 like 1
Also known as: DFNB124, PKHDL1
This protein is a component of hair-cell stereocilia coat that is required for normal hearing. Mutations cause autosomal recessive nonsyndromic deafness (DFNB124), affecting the auditory system specifically. The gene shows no constraint against loss-of-function variants (pLI near zero), consistent with its autosomal recessive inheritance pattern.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
477 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 | 37 | 0 | 37 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 1 | 362 | 4 | 0 | 367 |
Likely Benign | 1 | 26 | 1 | 4 | 32 |
Benign | 0 | 4 | 0 | 2 | 6 |
Conflicting | — | 1 | |||
| Total | 2 | 392 | 42 | 6 | 443 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PKHD1L1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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 →External Resources
Links to major genomics databases and tools