ITPR1-DT

Chr 3

ITPR1 divergent transcript

Also known as: ITPR1-AS1

I cannot provide a clinical summary for ITPR1-DT as no functional or clinical information has been provided for this gene. The data needed to describe protein function, associated diseases, and inheritance patterns is not available in the information given.

Clinical SummaryITPR1-DT
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ClinVar Variants
40 unique Pathogenic / Likely Pathogenic· 6 VUS of 46 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

46 submitted variants in ClinVar

Classification Summary

Pathogenic39
Likely Pathogenic1
VUS6
39
Pathogenic
1
Likely Pathogenic
6
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
39
Likely Pathogenic
1
VUS
6
Likely Benign
0
Benign
0
Total46

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ITPR1-DT · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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

No open access results found