SLC2A1-DT

Chr 1

SLC2A1 divergent transcript

Also known as: SLC2A1-AS1

I cannot provide a clinical gene summary for SLC2A1-DT as no information about this gene's protein function, associated diseases, or inheritance pattern was provided in the data below the rules. To write an accurate clinical summary following the specified guidelines, I would need details about what protein this gene encodes, what neurological conditions result from mutations, and the inheritance pattern.

Research

ResearchGenerating clinical summary…

Clinical Summary— SLC2A1-DT

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ClinVar Variants

2 unique Pathogenic / Likely Pathogenic of 10 total submissions

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

10 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic2

Likely Benign2

Benign3

Pathogenic

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Total
Pathogenic	1	1	0	2
Likely Pathogenic	0	0	0	0
VUS	0	0	0	0
Likely Benign	0	0	2	2
Benign	0	0	3	3
Total	1	1	5	7

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

7 pathogenic / likely-pathogenic (of 7) ClinVar copy-number / structural variants overlap SLC2A1-DT — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →