ELN-AS1

ELN antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 7:74058905-74062308

Links

ENSG00000232415NCBI:107986809HGNC:40212GenCCjaxSfariGnomADPubmedClinVar

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. These statistics are base on transcript: . Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
0
missense
0
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total 0 0 0 1 0
Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP