MSANTD1
Chr 4Myb/SANT DNA binding domain containing 1
Also known as: C4orf44
The protein is predicted to positively regulate DNA-templated transcription and localizes to nuclear bodies. Mutations cause autosomal recessive intellectual disability with developmental delay and behavioral abnormalities. The gene is highly constrained against loss-of-function variants (pLI 0.80, LOEUF 0.49), suggesting intolerance to protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
192 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 | 120 | 0 | 120 |
Likely Pathogenic | 0 | 0 | 5 | 0 | 5 |
VUS | 0 | 52 | 8 | 0 | 60 |
Likely Benign | 0 | 3 | 0 | 2 | 5 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 55 | 133 | 2 | 190 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MSANTD1 · 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 →No open access results found
External Resources
Links to major genomics databases and tools