GLYCTK-AS1

GLYCTK antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:52287103-52299221

Links

ENSG00000242797 ∙ ∙ ∙ HGNC:41043 ∙ ∙ ∙ 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 GLYCTK-AS1 gene.

• not provided (122 variants)
• Inborn genetic diseases (26 variants)
• D-Glyceric aciduria (17 variants)
• GLYCTK-related condition (4 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GLYCTK-AS1 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)			2		1	3
splice region						0
non coding	3	2	90	46	9	150
Total	3	2	92	46	10

Variants in GLYCTK-AS1

This is a list of pathogenic ClinVar variants found in the GLYCTK-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-52290363-C-T			Benign (Jul 19, 2023)
3-52290370-C-G			Uncertain significance (Nov 27, 2023)
3-52290371-G-T		not specified	Uncertain significance (Jun 03, 2024)
3-52290379-C-T		D-Glyceric aciduria	Conflicting classifications of pathogenicity (Dec 08, 2022)
3-52290380-G-A		not specified	Uncertain significance (May 08, 2023)
3-52290385-C-T		not specified	Uncertain significance (May 14, 2024)
3-52290392-A-G		not specified	Likely benign (Nov 13, 2023)
3-52290394-C-T			Uncertain significance (Mar 26, 2022)
3-52290399-C-T			Likely benign (Aug 17, 2023)
3-52290401-TCTG-T		D-Glyceric aciduria	Uncertain significance (Dec 18, 2017)
3-52290406-C-T			Uncertain significance (Aug 12, 2022)
3-52290407-G-A		not specified	Uncertain significance (Sep 26, 2024)
3-52290413-C-T			Likely benign (Sep 20, 2021)
3-52290418-G-T		not specified	Uncertain significance (Sep 09, 2024)
3-52290421-C-T			Benign (Jan 15, 2024)
3-52290422-G-A			Likely benign (Nov 25, 2023)
3-52290454-G-A		D-Glyceric aciduria	Uncertain significance (Jan 01, 2016)
3-52290457-A-G		not specified	Uncertain significance (Jul 31, 2024)
3-52290472-A-G			Uncertain significance (May 08, 2023)
3-52290494-C-T			Uncertain significance (Jul 18, 2024)
3-52290495-G-A		GLYCTK-related disorder	Likely benign (Oct 01, 2022)
3-52290511-C-T		not specified	Uncertain significance (Sep 01, 2021)
3-52290514-G-C		not specified	Uncertain significance (Nov 07, 2022)
3-52290519-A-G			Likely benign (Oct 24, 2022)
3-52290528-C-T			Likely benign (Aug 01, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP