NATD1

Chr 17

N-acetyltransferase domain containing 1

Also known as: C17orf103, Gtlf3b

17
ClinVar variants
5
Pathogenic / LP
pLI score
Missense Z
LOEUF
0
Active trials
Clinical SummaryNATD1
📋
ClinVar Variants
5 Pathogenic / Likely Pathogenic· 12 VUS of 17 total submissions
Some data sources returned errors (2)

ensembl: TimeoutError: The operation was aborted due to timeout

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

17 submitted variants in ClinVar

Classification Summary

Pathogenic5
VUS12
5
Pathogenic
12
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
5
0
5
Likely Pathogenic
0
0
0
0
0
VUS
0
2
10
0
12
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total0215017

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

NATD1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 10 full-text resultsSearch PubTator3 ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →