FOXP1-IT1

Chr 3

FOXP1 intronic transcript 1

I cannot provide a clinical gene summary for FOXP1-IT1 based on the information provided. The data appears to be incomplete or missing, which prevents me from accurately describing the protein function, associated diseases, and inheritance pattern as required by the guidelines.

0
Active trials
0
Pubs (1 yr)
17
P/LP submissions
P/LP missense
LOEUF
Mechanism
Clinical SummaryFOXP1-IT1
📋
ClinVar Variants
17 unique Pathogenic / Likely Pathogenic· 4 VUS of 21 total submissions
Some data sources returned errors (1)

pubtator: Error: PubTator3 HTTP 400

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

21 submitted variants in ClinVar

Classification Summary

Pathogenic16
Likely Pathogenic1
VUS4
16
Pathogenic
1
Likely Pathogenic
4
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
16
Likely Pathogenic
1
VUS
4
Likely Benign
0
Benign
0
Total21

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FOXP1-IT1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found