GeneBe

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
clinvar
 1
splice region
0
non coding
15
clinvar
5
clinvar
52
clinvar
48
clinvar
4
clinvar
 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)3036768
7-74059870-C-T Supravalvar aortic stenosis Likely benign (Mar 18, 2022)2416980
7-74059874-T-C Supravalvar aortic stenosis Likely benign (Aug 28, 2024)3707700
7-74059877-A-G not specified Conflicting classifications of pathogenicity (Sep 14, 2015)163393
7-74059886-G-A Supravalvar aortic stenosis Uncertain significance (Feb 03, 2025)3629013
7-74059891-GT-G Supravalvar aortic stenosis Pathogenic (Nov 07, 2024)3704600
7-74059892-TTCCTGGTGTCGGCGTGGCTCCTGGAGTTGGCGTGGC-T Supravalvar aortic stenosis Uncertain significance (Apr 12, 2023)2900658
7-74059899-TGTC-T Supravalvar aortic stenosis Uncertain significance (Oct 16, 2024)3693919
7-74059901-T-TC Pathogenic (Sep 05, 2023)2579635
7-74059902-C-T Supravalvar aortic stenosis Likely benign (May 25, 2024)453322
7-74059902-CGGCGTGGCTCCTGGAGTT-C Supravalvar aortic stenosis Uncertain significance (Nov 19, 2019)836268
7-74059903-G-A Supravalvar aortic stenosis Uncertain significance (May 29, 2024)2859412
7-74059905-C-T Supravalvar aortic stenosis Likely benign (Dec 04, 2024)1035322
7-74059905-CGTGGCTCCTGGAGTTGGCGTGGCTCCTGGTGTCGGT-C Supravalvar aortic stenosis • Cutis laxa, autosomal dominant 1;Supravalvar aortic stenosis Conflicting classifications of pathogenicity (Jan 21, 2025)1178166
7-74059906-G-A Supravalvar aortic stenosis Uncertain significance (Aug 09, 2022)1447530
7-74059906-GTGGCTCCTGGAGTTGGCGTGGCTCCTGGTGTCGGTGTGGCTCCTGGAGTTGGCT-G Supravalvar aortic stenosis Benign/Likely benign (Dec 19, 2024)1217528
7-74059922-G-A Supravalvar aortic stenosis Uncertain significance (May 29, 2023)2747874
7-74059923-C-CA Supravalvar aortic stenosis Pathogenic (Apr 23, 2020)1076093
7-74059924-G-A Supravalvar aortic stenosis Uncertain significance (Aug 21, 2024)3696330
7-74059924-G-T Supravalvar aortic stenosis Uncertain significance (Aug 05, 2024)3693807
7-74059924-GTGGCTCCTGGTGTCGGTGTGGCTCCTGGAGTTGGCT-G Supravalvar aortic stenosis Uncertain significance (Oct 31, 2024)3707494
7-74059930-C-A Inborn genetic diseases • Supravalvar aortic stenosis Uncertain significance (Jan 03, 2024)1964658
7-74059934-G-A Supravalvar aortic stenosis Uncertain significance (Jan 29, 2021)1470371
7-74059938-C-T Cutis laxa, autosomal dominant 1 • Supravalvar aortic stenosis Benign/Likely benign (Nov 05, 2024)908281
7-74059939-G-A Uncertain significance (Mar 19, 2024)3371173

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP