GeneBe

EPHA1-AS1

EPHA1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 7:143407562-143523449

Links

ENSG00000229153 ∙ NCBI:285965 ∙ ∙ HGNC:27799 ∙ ∙ ∙ 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 EPHA1-AS1 gene.

  • Inborn genetic diseases (30 variants)
  • not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EPHA1-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
25
clinvar
5
clinvar
2
clinvar
 32
Total 0 0 25 5 2

Variants in EPHA1-AS1

This is a list of pathogenic ClinVar variants found in the EPHA1-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
7-143408733-C-A not specified Uncertain significance (Feb 28, 2024)3089520
7-143408735-C-T Benign (Dec 31, 2019)771418
7-143408737-C-A Benign (Dec 31, 2019)768216
7-143408747-G-T not specified Uncertain significance (Feb 28, 2023)2490939
7-143408763-G-C not specified Uncertain significance (Apr 18, 2023)2538207
7-143443470-G-T not specified Uncertain significance (Jan 23, 2024)3174126
7-143443477-G-A not specified Uncertain significance (Aug 12, 2021)2243430
7-143443481-C-A not specified Uncertain significance (Apr 14, 2022)2283083
7-143443484-C-T not specified Likely benign (Jan 17, 2023)2456031
7-143443534-C-T not specified Likely benign (Mar 01, 2023)2456468
7-143443535-G-A not specified Uncertain significance (Nov 07, 2022)2281593
7-143443540-G-T not specified Uncertain significance (Jan 06, 2023)3174135
7-143443597-C-T not specified Uncertain significance (Jun 03, 2024)3324495
7-143443649-G-A not specified Uncertain significance (Aug 02, 2022)2297693
7-143443884-G-A not specified Uncertain significance (May 26, 2024)3324496
7-143443916-C-G not specified Likely benign (Oct 25, 2022)2319161
7-143443943-A-G not specified Uncertain significance (Aug 18, 2023)2601937
7-143443999-G-A not specified Likely benign (Jul 13, 2021)3174127
7-143444002-A-G not specified Uncertain significance (Nov 29, 2023)3174128
7-143444008-C-T not specified Likely benign (Oct 03, 2023)3174129
7-143444009-G-A not specified Uncertain significance (Oct 12, 2021)2211233
7-143444038-C-A not specified Uncertain significance (Mar 01, 2024)3174130
7-143444056-T-G not specified Uncertain significance (Feb 28, 2023)2491778
7-143444146-T-G not specified Uncertain significance (Nov 22, 2023)3174131
7-143444179-A-G not specified Likely benign (Jun 02, 2023)2518268

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP