EGILA

Gene

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

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

MANE transcript

N/A

Inheritance

—

ClinVar variants

P:2

Top phenotype

Amyotrophic lateral sclerosis type 9

Max pathogenic AF

—

Genomic locus

chr14:20,693,480-20,707,120

External References & Databases

Ensembl (ENSG00000258451)

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to EGILA variants in ClinVar

8 Conditions Cataloged

not providedTotal: 36

Amyotrophic lateral sclerosis type 9Total: 26

Inborn genetic diseasesTotal: 15

not specifiedTotal: 6

ANG-related conditionTotal: 5

Amyotrophic lateral sclerosisTotal: 1

Frontotemporal dementiaTotal: 1

Amyotrophic lateral sclerosis type 10Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)	2 clinvar					2
Total	2	0	0	0	0	2

Highest pathogenic variant AF is 0.00000657134

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.