GTSE1-DT

Chr 22

GTSE1 divergent transcript

Also known as: CN5H6.4, GTSE1-AS1, LL22NC03-5H6.6

NCBI Gene: 150384ENSG00000277232
42
ClinVar variants
34
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— GTSE1-DT
📋
ClinVar Variants
34 Pathogenic / Likely Pathogenic· 7 VUS of 42 total submissions
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

42 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic34
VUS7
Benign1
34
Pathogenic
7
VUS
1
Benign

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————34
Likely Pathogenic
————0
VUS
————7
Likely Benign
————0
Benign
————1
Total—42

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

GTSE1-DT · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for GTSE1-DT

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools