THYN1
Chr 11thymocyte nuclear protein 1
Also known as: HSPC144, MDS012, MY105, THY28, THY28KD
The protein specifically binds 5-hydroxymethylcytosine (5hmC) and acts as a reader of this DNA modification, and may be involved in apoptosis induction. Mutations cause autosomal recessive neurodevelopmental disorder with seizures and brain atrophy. The gene shows extremely high constraint against loss-of-function variants, indicating it is essential for normal human development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
152 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 | 83 | 0 | 83 |
Likely Pathogenic | 0 | 0 | 7 | 0 | 7 |
VUS | 0 | 38 | 12 | 0 | 50 |
Likely Benign | 0 | 4 | 1 | 0 | 5 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 42 | 103 | 0 | 145 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
THYN1 · 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