ELN-AS1

ELN antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 7:74058905-74062308

Links

ENSG00000232415 ∙ NCBI:107986809 ∙ ∙ HGNC:40212 ∙ ∙ ∙ 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 ELN-AS1 gene.

• Supravalvar aortic stenosis (89 variants)
• not provided (54 variants)
• Cutis laxa, autosomal dominant 1 (10 variants)
• not specified (9 variants)
• Inborn genetic diseases (8 variants)
• ELN-related condition (4 variants)
• Cutis laxa, autosomal dominant (3 variants)
• Cutis laxa, autosomal dominant 1;Williams syndrome;Supravalvar aortic stenosis (2 variants)
• Williams syndrome;Cutis laxa, autosomal dominant 1;Supravalvar aortic stenosis (1 variants)
• Familial thoracic aortic aneurysm and aortic dissection (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ELN-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)				1		1
splice region						0
non coding	15	5	52	48	4	124
Total	15	5	52	49	4

Variants in ELN-AS1

This is a list of pathogenic ClinVar variants found in the ELN-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
7-74059865-C-T		ELN-related disorder	Likely benign (Feb 08, 2021)
7-74059870-C-T		Supravalvar aortic stenosis	Likely benign (Mar 18, 2022)
7-74059877-A-G		not specified	Conflicting classifications of pathogenicity (Sep 14, 2015)
7-74059892-TTCCTGGTGTCGGCGTGGCTCCTGGAGTTGGCGTGGC-T		Supravalvar aortic stenosis	Uncertain significance (Apr 12, 2023)
7-74059901-T-TC			Pathogenic (Sep 05, 2023)
7-74059902-C-T		Supravalvar aortic stenosis	Likely benign (Mar 06, 2022)
7-74059902-CGGCGTGGCTCCTGGAGTT-C		Supravalvar aortic stenosis	Uncertain significance (Nov 19, 2019)
7-74059903-G-A		Supravalvar aortic stenosis	Uncertain significance (Aug 27, 2023)
7-74059905-C-T		Supravalvar aortic stenosis	Likely benign (Sep 01, 2022)
7-74059905-CGTGGCTCCTGGAGTTGGCGTGGCTCCTGGTGTCGGT-C		Supravalvar aortic stenosis	Conflicting classifications of pathogenicity (Aug 04, 2023)
7-74059906-G-A		Supravalvar aortic stenosis	Uncertain significance (Aug 09, 2022)
7-74059906-GTGGCTCCTGGAGTTGGCGTGGCTCCTGGTGTCGGTGTGGCTCCTGGAGTTGGCT-G		Supravalvar aortic stenosis	Benign/Likely benign (Jan 24, 2024)
7-74059922-G-A		Supravalvar aortic stenosis	Uncertain significance (May 29, 2023)
7-74059923-C-CA		Supravalvar aortic stenosis	Pathogenic (Apr 23, 2020)
7-74059930-C-A		Supravalvar aortic stenosis • Inborn genetic diseases	Uncertain significance (Jan 03, 2024)
7-74059934-G-A		Supravalvar aortic stenosis	Uncertain significance (Jan 29, 2021)
7-74059938-C-T		Cutis laxa, autosomal dominant 1 • Supravalvar aortic stenosis	Benign/Likely benign (Jan 14, 2024)
7-74059940-G-C		Supravalvar aortic stenosis	Uncertain significance (Jul 11, 2022)
7-74059941-T-C		Supravalvar aortic stenosis • Cutis laxa, autosomal dominant 1	Uncertain significance (Jan 12, 2018)
7-74059941-TGTGGCTCCTGGAGTTGGCTTGGCTCCTGGAGTTGGC-T		Supravalvar aortic stenosis	Uncertain significance (Jul 01, 2023)
7-74059942-G-A			Uncertain significance (Mar 29, 2023)
7-74059942-GTGGCTCCTGGAGTTGGCT-G		not specified	Uncertain significance (May 04, 2022)
7-74059952-GA-G		Supravalvar aortic stenosis	Pathogenic (Jul 10, 2018)
7-74059955-T-C		Supravalvar aortic stenosis	Uncertain significance (Dec 20, 2022)
7-74059955-T-G		Cutis laxa, autosomal dominant 1	Uncertain significance (Feb 02, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP