ERCC6L2-AS1

ERCC6L2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 9:95759231-95876241

Previous symbols: [ "C9orf130", "LINC00476" ]

Links

ENSG00000175611 ∙ NCBI:100128782 ∙ ∙ HGNC:27858 ∙ Uniprot:Q8WZB0 ∙ AlphaFold ∙ 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 ERCC6L2-AS1 gene.

• not provided (16 variants)
• not specified (2 variants)
• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERCC6L2-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			8	3	7	18
Total	0	0	8	3	7

Variants in ERCC6L2-AS1

This is a list of pathogenic ClinVar variants found in the ERCC6L2-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
9-95876006-A-G			Benign (Feb 01, 2024)
9-95876007-T-G			Uncertain significance (May 23, 2023)
9-95876009-C-G			Uncertain significance (Apr 06, 2023)
9-95876013-C-T			Uncertain significance (Oct 24, 2021)
9-95876015-G-C			Uncertain significance (Dec 17, 2020)
9-95876023-C-T			Likely benign (Aug 19, 2022)
9-95876024-C-T			Benign (Feb 01, 2024)
9-95876026-T-A		ERCC6L2-related disorder	Benign (Aug 17, 2023)
9-95876026-TC-AA			Benign (Jan 19, 2024)
9-95876027-C-A		ERCC6L2-related disorder	Benign (Aug 17, 2023)
9-95876027-C-T		Inborn genetic diseases	Uncertain significance (Feb 16, 2023)
9-95876029-C-T			Likely benign (Mar 14, 2022)
9-95876030-C-G			Uncertain significance (Mar 16, 2022)
9-95876031-C-G		not specified	Benign (Jan 16, 2024)
9-95876037-G-C		Inborn genetic diseases	Uncertain significance (May 01, 2024)
9-95876038-G-C			Likely benign (Jan 04, 2024)
9-95876038-G-T			Benign (Mar 14, 2023)
9-95876042-G-A		Inborn genetic diseases	Uncertain significance (Nov 12, 2023)
9-95876043-A-G			Uncertain significance (May 16, 2021)
9-95876046-C-A		not specified • ERCC6L2-related disorder	Benign/Likely benign (Jul 01, 2024)
9-95876046-C-T			Uncertain significance (Sep 01, 2021)
9-95876047-G-T			Likely benign (Nov 02, 2023)
9-95876051-G-C			Uncertain significance (Aug 28, 2023)
9-95876053-G-C			Likely benign (Feb 22, 2023)
9-95876054-C-T			Uncertain significance (Jan 15, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0825