EHBP1-AS1

EHBP1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:62957316-63048640

Links

ENSG00000231609 ∙ NCBI:100132215 ∙ ∙ HGNC:55766 ∙ ∙ ∙ 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 EHBP1-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EHBP1-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			24	1		25
Total	0	0	24	1	0

Variants in EHBP1-AS1

This is a list of pathogenic ClinVar variants found in the EHBP1-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
2-62979326-G-A		not specified	Uncertain significance (Nov 14, 2023)
2-62979327-C-T		not specified	Uncertain significance (Mar 07, 2024)
2-62987954-G-T		not specified	Uncertain significance (Nov 08, 2024)
2-62987966-G-A		not specified	Uncertain significance (May 30, 2023)
2-62990727-A-C		not specified	Uncertain significance (May 03, 2023)
2-62990744-G-T		not specified	Uncertain significance (Jun 19, 2024)
2-62990794-G-A		not specified	Uncertain significance (Feb 14, 2024)
2-62993526-T-C		EHBP1-related disorder	Likely benign (May 20, 2019)
2-62993545-C-G		EHBP1-related disorder	Likely benign (Dec 14, 2020)
2-62993546-T-C		not specified	Uncertain significance (Jun 29, 2023)
2-62993548-C-T		not specified	Uncertain significance (Jul 02, 2024)
2-62993579-G-A		not specified	Uncertain significance (Apr 24, 2024)
2-62993648-A-C		not specified	Uncertain significance (Sep 14, 2023)
2-62993665-C-A		not specified	Uncertain significance (Mar 30, 2024)
2-62993903-A-T		not specified	Uncertain significance (Aug 01, 2024)
2-62993961-A-C		not specified	Uncertain significance (Nov 26, 2024)
2-62996650-T-G		not specified	Uncertain significance (Jan 27, 2022)
2-62996726-C-G			Likely benign (Aug 01, 2022)
2-63037581-G-A		not specified	Uncertain significance (Jun 30, 2022)
2-63038810-A-G		not specified	Uncertain significance (May 15, 2023)
2-63038815-A-C		not specified	Uncertain significance (Jul 06, 2021)
2-63045072-A-G		not specified	Uncertain significance (Oct 24, 2024)
2-63045077-A-G		not specified	Uncertain significance (Jul 15, 2021)
2-63045095-C-A		not specified	Uncertain significance (Jan 09, 2024)
2-63045153-T-A		not specified	Uncertain significance (Nov 12, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP