GLIS3-AS1

GLIS3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 9:3898642-3901252

Previous symbols: [ "C9orf70" ]

Links

ENSG00000237009 ∙ NCBI:84850 ∙ ∙ HGNC:28260 ∙ ∙ ∙ 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 GLIS3-AS1 gene.

• not provided (12 variants)
• Neonatal diabetes mellitus with congenital hypothyroidism (11 variants)
• Inborn genetic diseases (4 variants)
• Monogenic diabetes (3 variants)
• not specified (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GLIS3-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)						0
splice region						0
non coding			11	6	1	18
Total	0	0	11	6	1

Variants in GLIS3-AS1

This is a list of pathogenic ClinVar variants found in the GLIS3-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
9-3898672-C-G			Likely benign (Sep 01, 2022)
9-3898709-C-T		Neonatal diabetes mellitus with congenital hypothyroidism	Uncertain significance (Jan 13, 2018)
9-3898710-G-A			Likely benign (Jul 14, 2023)
9-3898712-G-A		Neonatal diabetes mellitus with congenital hypothyroidism	Uncertain significance (Sep 06, 2021)
9-3898723-C-T		not specified • Neonatal diabetes mellitus with congenital hypothyroidism • Monogenic diabetes	Uncertain significance (Jan 02, 2024)
9-3898724-G-A		Monogenic diabetes • Neonatal diabetes mellitus with congenital hypothyroidism	Conflicting classifications of pathogenicity (Jan 01, 2024)
9-3898730-C-T		Neonatal diabetes mellitus with congenital hypothyroidism • Monogenic diabetes • not specified • Inborn genetic diseases	Conflicting classifications of pathogenicity (Jan 05, 2024)
9-3898733-T-G			Uncertain significance (Feb 24, 2022)
9-3898742-C-T		Neonatal diabetes mellitus with congenital hypothyroidism	Uncertain significance (Apr 27, 2023)
9-3898747-G-A		Inborn genetic diseases	Uncertain significance (Oct 06, 2023)
9-3898747-G-T		Inborn genetic diseases	Uncertain significance (Apr 01, 2024)
9-3898759-G-A		Neonatal diabetes mellitus with congenital hypothyroidism	Uncertain significance (Oct 24, 2022)
9-3898785-G-A			Likely benign (Nov 29, 2022)
9-3898792-C-A		Neonatal diabetes mellitus with congenital hypothyroidism • Inborn genetic diseases	Uncertain significance (Sep 30, 2021)
9-3898806-G-C		Inborn genetic diseases	Uncertain significance (Aug 19, 2024)
9-3898809-T-C			Likely benign (Aug 11, 2023)
9-3898819-T-G		Inborn genetic diseases	Uncertain significance (Dec 20, 2021)
9-3898824-G-C		Inborn genetic diseases	Uncertain significance (Oct 06, 2023)
9-3898825-C-T		Neonatal diabetes mellitus with congenital hypothyroidism	Uncertain significance (Sep 24, 2021)
9-3898831-C-G		Inborn genetic diseases	Uncertain significance (Dec 14, 2021)
9-3898831-C-T		Neonatal diabetes mellitus with congenital hypothyroidism • Inborn genetic diseases	Uncertain significance (Dec 16, 2023)
9-3898832-G-A		Inborn genetic diseases	Uncertain significance (Apr 08, 2022)
9-3898851-G-A		Neonatal diabetes mellitus with congenital hypothyroidism	Likely benign (Dec 06, 2022)
9-3898852-G-A			Likely benign (Apr 10, 2022)
9-3898987-A-G			Benign (Nov 12, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP