GIRGL

Chr 7

glutamine insufficiency regulator of glutaminase lncRNA

Also known as: MACC1-DT

NCBI Gene: 100506098ENSG00000233834
17
ClinVar variants
15
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— GIRGL
📋
ClinVar Variants
15 Pathogenic / Likely Pathogenic· 2 VUS of 17 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

17 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic15
VUS2
15
Pathogenic
2
VUS

Curated Variants Distribution

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

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————15
Likely Pathogenic
————0
VUS
————2
Likely Benign
————0
Benign
————0
Total—17

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

GIRGL · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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