GCLC-AS1

GCLC antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 6:53418454-53522561

Links

ENSG00000249379 ∙ NCBI:105375095 ∙ ∙ HGNC:56649 ∙ ∙ ∙ 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 GCLC-AS1 gene.

• not provided (19 variants)
• Gamma-glutamylcysteine synthetase deficiency (4 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GCLC-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	1		9	8	6	24
Total	1	0	9	8	6

Variants in GCLC-AS1

This is a list of pathogenic ClinVar variants found in the GCLC-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
6-53498689-GGGCT-G			Benign (Nov 11, 2018)
6-53498761-T-C			Uncertain significance (May 17, 2022)
6-53498763-G-C		Gamma-glutamylcysteine synthetase deficiency	Uncertain significance (-)
6-53498796-T-C			Uncertain significance (May 04, 2022)
6-53498806-C-A		Inborn genetic diseases	Uncertain significance (Mar 29, 2022)
6-53498852-G-A			Likely benign (Aug 02, 2022)
6-53498879-C-A		Inborn genetic diseases	Uncertain significance (Aug 14, 2023)
6-53498883-T-G			Uncertain significance (Dec 16, 2019)
6-53498927-G-A			Likely benign (Jan 25, 2024)
6-53498927-G-C		Gamma-glutamylcysteine synthetase deficiency	Uncertain significance (Apr 11, 2023)
6-53498935-C-T			Uncertain significance (Feb 11, 2022)
6-53498975-C-T			Likely benign (Dec 21, 2023)
6-53498978-G-C			Benign (Jan 29, 2024)
6-53498986-C-T			Benign (Jan 29, 2024)
6-53499011-GT-G			Benign (Nov 11, 2018)
6-53499150-G-C			Benign (Jun 18, 2021)
6-53500030-A-C			Likely benign (Jul 11, 2022)
6-53500035-G-C			Likely benign (Jan 07, 2024)
6-53500115-G-A			Benign/Likely benign (Aug 17, 2023)
6-53500139-T-A			Likely benign (Nov 01, 2023)
6-53500179-G-T			Likely benign (Apr 06, 2022)
6-53500221-G-C			Benign (Jun 18, 2021)
6-53500228-T-C			Likely benign (Mar 27, 2022)
6-53500239-C-T			Likely benign (Jul 29, 2023)
6-53500253-A-G			Likely benign (Feb 17, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP