EGILA

EGFR interacting lncRNA, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 14:20693480-20707120

Links

ENSG00000258451 ∙ ∙ ∙ HGNC:54482 ∙ ∙ ∙ 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 EGILA gene.

• not provided (36 variants)
• Amyotrophic lateral sclerosis type 9 (26 variants)
• Inborn genetic diseases (15 variants)
• not specified (6 variants)
• ANG-related condition (5 variants)
• Amyotrophic lateral sclerosis (1 variants)
• Frontotemporal dementia (1 variants)
• Amyotrophic lateral sclerosis type 10 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EGILA 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					2
splice region						0
non coding	4	1	37	17	3	62
Total	6	1	37	17	3

Highest pathogenic variant AF is 0.00000657

Variants in EGILA

This is a list of pathogenic ClinVar variants found in the EGILA region.

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

Position	Type	Phenotype	Significance	ClinVar
14-20693543-G-A		Amyotrophic lateral sclerosis type 9	Uncertain significance (Jan 13, 2018)
14-20693555-G-T		ANG-related disorder	Likely benign (Jun 27, 2022)
14-20693567-G-A		Amyotrophic lateral sclerosis type 9 • Amyotrophic lateral sclerosis type 10 • ANG-related disorder	Conflicting classifications of pathogenicity (Jan 11, 2024)
14-20693600-C-T		Inborn genetic diseases	Likely benign (Mar 14, 2024)
14-20693600-C-CGTGCTG			Uncertain significance (Nov 17, 2023)
14-20693602-T-C		Amyotrophic lateral sclerosis type 9	Uncertain significance (Apr 27, 2017)
14-20693617-T-A			Uncertain significance (Oct 01, 2017)
14-20693625-C-T		ANG-related disorder	Uncertain significance (Nov 27, 2023)
14-20693626-C-A		Amyotrophic lateral sclerosis type 9	Benign/Likely benign (Apr 20, 2022)
14-20693626-C-T		Amyotrophic lateral sclerosis type 9	Uncertain significance (Jan 26, 2022)
14-20693649-A-G			Uncertain significance (Jun 19, 2022)
14-20693658-C-T			Uncertain significance (Jun 01, 2016)
14-20693660-C-A		Inborn genetic diseases	Uncertain significance (Dec 07, 2021)
14-20693663-C-T		Amyotrophic lateral sclerosis type 9 • Inborn genetic diseases	Benign/Likely benign (Nov 06, 2023)
14-20693669-C-G			Likely benign (Apr 02, 2022)
14-20693671-A-T		Amyotrophic lateral sclerosis type 9	Pathogenic (Apr 01, 2006)
14-20693674-A-G			Uncertain significance (Oct 17, 2022)
14-20693675-C-T			Likely benign (Aug 29, 2023)
14-20693677-A-G		Inborn genetic diseases	Uncertain significance (Oct 12, 2022)
14-20693681-T-TCA			Uncertain significance (Apr 16, 2023)
14-20693685-A-G		Amyotrophic lateral sclerosis type 9	Pathogenic (Apr 01, 2006)
14-20693686-A-T		Amyotrophic lateral sclerosis type 9 • not specified • ANG-related disorder	Conflicting classifications of pathogenicity (Feb 01, 2024)
14-20693693-G-C		Inborn genetic diseases	Uncertain significance (Jan 31, 2024)
14-20693696-C-T		not specified • Inborn genetic diseases	Benign/Likely benign (Jun 15, 2024)
14-20693697-C-T			Uncertain significance (Mar 06, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP