GeneBe

EVX1-AS

EVX1 antisense RNA, the group of Antisense RNAs

Basic information

Region (hg38): 7:27241429-27247239

Links

ENSG00000253405 ∙ ∙ ∙ HGNC:40223 ∙ ∙ ∙ 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 EVX1-AS gene.

  • Inborn genetic diseases (22 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EVX1-AS 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
22
clinvar
1
clinvar
 23
Total 0 0 22 0 1

Variants in EVX1-AS

This is a list of pathogenic ClinVar variants found in the EVX1-AS region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
7-27243051-G-A not specified Uncertain significance (Dec 15, 2021)2219287
7-27243051-G-T not specified Uncertain significance (Jul 11, 2023)2610714
7-27243079-G-T not specified Uncertain significance (Jun 11, 2024)2392267
7-27243121-G-A not specified Uncertain significance (Sep 16, 2021)2250290
7-27243167-G-C not specified Uncertain significance (Jul 14, 2024)3510758
7-27243199-A-G not specified Likely benign (Oct 25, 2024)3510762
7-27243217-G-A not specified Uncertain significance (Aug 12, 2021)2243620
7-27243218-G-A not specified Uncertain significance (Mar 07, 2023)2495429
7-27243226-G-A not specified Uncertain significance (Jul 10, 2024)3510757
7-27243232-G-A not specified Uncertain significance (Nov 27, 2023)3090914
7-27243235-C-T not specified Uncertain significance (Feb 14, 2025)3846667
7-27243359-C-A not specified Uncertain significance (Dec 07, 2022)2409184
7-27243418-G-A not specified Uncertain significance (Nov 20, 2024)3510765
7-27243430-G-A not specified Uncertain significance (Sep 27, 2022)2313540
7-27243439-G-A not specified Uncertain significance (Jan 26, 2022)2273138
7-27245053-G-T not specified Uncertain significance (Oct 26, 2024)3510760
7-27245102-A-G not specified Uncertain significance (Nov 15, 2024)3510763
7-27245111-G-A not specified Uncertain significance (Nov 09, 2021)2412423
7-27245209-C-T not specified Uncertain significance (Oct 19, 2024)3510756
7-27245231-G-T not specified Uncertain significance (Nov 17, 2023)3090915
7-27245908-T-G not specified Uncertain significance (Feb 09, 2025)3846666
7-27245944-C-A not specified Uncertain significance (Jan 09, 2025)3846662
7-27245957-C-A not specified Uncertain significance (Jun 30, 2024)3090916
7-27245976-A-G not specified Uncertain significance (Dec 11, 2023)3090917
7-27246010-C-A not specified Uncertain significance (Oct 03, 2023)3090918

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP