GOLGA6L24

Chr 15

golgin A6 family like 24

Also known as: GOLGA6L24P

I cannot provide a clinical summary for GOLGA6L24 as no information about this gene's protein function, associated diseases, or inheritance patterns was provided in the data below the instructions. Without supporting evidence about what the protein does and what conditions result from mutations in this gene, I cannot write an accurate clinical summary following the strict requirement to use only provided information.

Multiplemechanism

Population Genetics & Constraint

Constraint data not available from gnomAD.

DN
0.7325th %ile
GOF
0.79top 25%
LOF
0.2680th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GOLGA6L24 · 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.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 1 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found