ELN-AS1

Gene

ELN antisense RNA 1, the group of Antisense RNAs

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

B:1

Top phenotype

Supravalvar aortic stenosis

Max pathogenic AF

—

Genomic locus

chr7:74,058,905-74,062,308

External References & Databases

Ensembl (ENSG00000232415)

NCBI Gene (107986809)

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 ELN-AS1 variants in ClinVar

10 Conditions Cataloged

Supravalvar aortic stenosisTotal: 89

not providedTotal: 54

Cutis laxa, autosomal dominant 1Total: 10

not specifiedTotal: 9

Inborn genetic diseasesTotal: 8

ELN-related conditionTotal: 4

Cutis laxa, autosomal dominantTotal: 3

Cutis laxa, autosomal dominant 1;Williams syndrome;Supravalvar aortic stenosisTotal: 2

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)				1 clinvar		1
Total	0	0	0	1	0	1

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.

dbNSFP Gene Annotations

Source: dbNSFP