SLC2A1-DT

SLC2A1 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): 1:42959028-42996814

Previous symbols: [ "SLC2A1-AS1" ]

Links

ENSG00000227533 ∙ NCBI:440584 ∙ ∙ HGNC:44187 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC2A1-DT gene.

• not provided (5 variants)
• Dystonic disorder (4 variants)
• GLUT1 deficiency syndrome (4 variants)
• Epilepsy, idiopathic generalized, susceptibility to, 12 (1 variants)
• Encephalopathy due to GLUT1 deficiency (1 variants)
• Dystonia 9 (1 variants)
• Hereditary cryohydrocytosis with reduced stomatin (1 variants)
• Childhood onset GLUT1 deficiency syndrome 2 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC2A1-DT gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2	3	2	7
Total	0	0	2	3	2

Variants in SLC2A1-DT

This is a list of pathogenic ClinVar variants found in the SLC2A1-DT region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-42959035-C-T		GLUT1 deficiency syndrome • Dystonic disorder	Uncertain significance (Jun 14, 2016)
1-42959039-C-A		Dystonic disorder • GLUT1 deficiency syndrome	Uncertain significance (Jun 14, 2016)
1-42959039-C-G			Uncertain significance (Apr 24, 2020)
1-42959040-CT-C		Dystonic disorder • GLUT1 deficiency syndrome • Epilepsy, idiopathic generalized, susceptibility to, 12 • Dystonia 9 • Hereditary cryohydrocytosis with reduced stomatin • Encephalopathy due to GLUT1 deficiency • Childhood onset GLUT1 deficiency syndrome 2	Benign (Apr 11, 2023)
1-42959075-G-C		Dystonic disorder • GLUT1 deficiency syndrome	Conflicting classifications of pathogenicity (Jun 14, 2018)
1-42959134-C-A		Dystonic disorder • GLUT1 deficiency syndrome	Uncertain significance (Jun 14, 2016)
1-42959141-C-G		GLUT1 deficiency syndrome • Encephalopathy due to GLUT1 deficiency • Dystonic disorder • Hereditary cryohydrocytosis with reduced stomatin • Childhood onset GLUT1 deficiency syndrome 2 • Dystonia 9 • Epilepsy, idiopathic generalized, susceptibility to, 12	Benign (Apr 11, 2023)
1-42959161-C-G		GLUT1 deficiency syndrome • Dystonic disorder	Uncertain significance (Jun 14, 2016)
1-42959206-A-T			Likely benign (Jun 14, 2018)
1-42959411-G-T			Benign (Jun 19, 2018)
1-42959444-C-G			Likely benign (Jul 27, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP