GeneBe

ESAM-AS1

ESAM antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 11:124758841-124766832

Links

ENSG00000250073 ∙ NCBI:101929340 ∙ ∙ HGNC:55558 ∙ ∙ ∙ 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 ESAM-AS1 gene.

  • Inborn genetic diseases (2 variants)
  • Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity (1 variants)
  • See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ESAM-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)
0
splice region
0
non coding
1
clinvar
2
clinvar
 3
Total 0 1 2 0 0

Variants in ESAM-AS1

This is a list of pathogenic ClinVar variants found in the ESAM-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
11-124762092-A-C not specified Uncertain significance (May 18, 2023)2548767
11-124762120-A-T Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity • See cases Likely pathogenic (Jan 01, 2023)1810272
11-124762141-G-A not specified Uncertain significance (Sep 16, 2021)2249991

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP