LHFPL6
Chr 13LHFPL tetraspan subfamily member 6
Also known as: LHFP
LHFPL6 encodes a tetraspan transmembrane protein that is part of the lipoma HMGIC fusion partner gene family. Mutations cause autosomal recessive nonsyndromic hearing loss, typically presenting in early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.601), consistent with its essential role in auditory function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
92 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 | 46 | 0 | 46 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 24 | 7 | 0 | 31 |
Likely Benign | 0 | 1 | 2 | 0 | 3 |
Benign | 0 | 0 | 0 | 1 | 1 |
| Total | 0 | 25 | 55 | 1 | 81 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LHFPL6 · 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 →External Resources
Links to major genomics databases and tools