HSD17B2-AS1

HSD17B2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 16:82044328-82139631

Links

ENSG00000261235 ∙ NCBI:105371363 ∙ ∙ HGNC:56281 ∙ ∙ ∙ 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 HSD17B2-AS1 gene.

• Inborn genetic diseases (24 variants)
• not provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HSD17B2-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			22	3	7	32
Total	0	0	22	3	7

Variants in HSD17B2-AS1

This is a list of pathogenic ClinVar variants found in the HSD17B2-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
16-82068180-C-T		not specified	Likely benign (Jun 07, 2023)
16-82068202-A-C		not specified	Uncertain significance (Apr 22, 2022)
16-82068227-C-G		not specified	Uncertain significance (Mar 14, 2023)
16-82068227-C-T		not specified	Uncertain significance (May 11, 2022)
16-82068238-G-A		not specified	Uncertain significance (Aug 02, 2022)
16-82068265-G-A			Benign (Mar 29, 2018)
16-82068293-C-T		not specified	Uncertain significance (Jun 09, 2022)
16-82068294-G-A			Benign (Jun 26, 2018)
16-82068296-G-A		not specified	Uncertain significance (Aug 02, 2021)
16-82068298-C-A		not specified	Uncertain significance (Feb 21, 2024)
16-82068344-A-C			Uncertain significance (Jul 01, 2024)
16-82068357-G-C		not specified	Uncertain significance (Aug 13, 2021)
16-82068367-A-G		not specified	Uncertain significance (Jul 09, 2021)
16-82068369-G-A		not specified	Uncertain significance (Aug 31, 2022)
16-82070984-C-T		not specified	Uncertain significance (Jul 06, 2021)
16-82070986-A-T		not specified	Likely benign (Oct 06, 2021)
16-82070997-G-A			Benign (Mar 05, 2018)
16-82070998-C-T		not specified	Uncertain significance (Jul 27, 2022)
16-82071029-T-C		not specified	Uncertain significance (Apr 12, 2024)
16-82071059-T-C		not specified	Uncertain significance (Mar 04, 2024)
16-82071075-G-C		not specified	Uncertain significance (Jan 23, 2023)
16-82071117-C-G		not specified	Uncertain significance (Nov 18, 2023)
16-82090913-A-G			Benign (Aug 15, 2018)
16-82090925-G-A		not specified	Uncertain significance (Apr 18, 2023)
16-82090956-C-G			Benign (Jul 06, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP