HECTD2-AS1

HECTD2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 10:91306956-91613791

Links

ENSG00000289228 ∙ NCBI:100188947 ∙ ∙ HGNC:48679 ∙ ∙ ∙ 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 HECTD2-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HECTD2-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						0
Total	0	0	0	0	0

Variants in HECTD2-AS1

This is a list of pathogenic ClinVar variants found in the HECTD2-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
10-91410457-G-C		not specified	Uncertain significance (Jan 17, 2023)
10-91410469-G-T		not specified	Uncertain significance (Jul 14, 2022)
10-91410526-G-C		not specified	Uncertain significance (Feb 21, 2024)
10-91410532-G-C		not specified	Uncertain significance (Mar 01, 2023)
10-91410550-G-C		not specified	Uncertain significance (May 31, 2023)
10-91410557-C-T		not specified	Uncertain significance (Oct 17, 2023)
10-91425297-C-T		not specified	Uncertain significance (Mar 15, 2024)
10-91425380-G-A		not specified	Likely benign (Mar 15, 2024)
10-91460471-C-T		not specified	Uncertain significance (May 17, 2023)
10-91460472-G-A		not specified	Uncertain significance (Jul 14, 2021)
10-91460474-A-G		not specified	Uncertain significance (Mar 29, 2023)
10-91460528-A-G		not specified	Likely benign (Feb 15, 2023)
10-91461264-G-C		not specified	Uncertain significance (Apr 01, 2024)
10-91461300-C-A		not specified	Uncertain significance (Nov 10, 2022)
10-91461301-A-G		not specified	Uncertain significance (May 03, 2023)
10-91478210-G-A		not specified	Likely benign (May 06, 2024)
10-91484598-C-T		not specified	Uncertain significance (Dec 08, 2023)
10-91485272-C-G		not specified	Uncertain significance (Aug 17, 2021)
10-91487696-A-G		not specified	Uncertain significance (May 26, 2024)
10-91491275-C-T		not specified	Uncertain significance (Dec 20, 2023)
10-91493495-G-A		not specified	Uncertain significance (Mar 07, 2024)
10-91496322-C-A		not specified	Uncertain significance (Jun 19, 2024)
10-91496338-A-G		not specified	Likely benign (Oct 02, 2023)
10-91496340-G-A		not specified	Uncertain significance (Oct 12, 2021)
10-91496341-T-C		not specified	Uncertain significance (Apr 12, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP