HSD17B3-AS1

HSD17B3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 9:96246462-96257179

Links

ENSG00000232283 ∙ NCBI:105376162 ∙ ∙ HGNC:53136 ∙ ∙ ∙ 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 HSD17B3-AS1 gene.

• not provided (3 variants)
• Testosterone 17-beta-dehydrogenase deficiency (2 variants)
• not specified (1 variants)
• Pseudohermaphroditism (1 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HSD17B3-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	1		4	1	2	8
Total	1	0	4	1	2

Variants in HSD17B3-AS1

This is a list of pathogenic ClinVar variants found in the HSD17B3-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
9-96246536-T-G			Likely benign (Apr 09, 2023)
9-96246548-G-T			Likely benign (Jan 31, 2024)
9-96246594-C-A		Testosterone 17-beta-dehydrogenase deficiency	Conflicting classifications of pathogenicity (Jan 04, 2024)
9-96246596-A-G		not specified	Uncertain significance (May 17, 2018)
9-96246604-C-T			Likely benign (Feb 25, 2023)
9-96246610-G-T			Likely benign (Nov 06, 2023)
9-96249735-T-C			Likely benign (Oct 03, 2023)
9-96249737-T-C			Likely benign (Jan 19, 2023)
9-96249739-T-G			Likely benign (Jul 17, 2023)
9-96249740-T-A			Likely benign (Jan 02, 2024)
9-96249741-G-C			Likely benign (Jun 05, 2023)
9-96249742-A-G		Testosterone 17-beta-dehydrogenase deficiency	Conflicting classifications of pathogenicity (Jan 30, 2024)
9-96249743-T-C			Likely benign (Feb 18, 2023)
9-96249744-C-G			Likely benign (Apr 27, 2023)
9-96249759-C-T		Inborn genetic diseases	Uncertain significance (Sep 15, 2021)
9-96249760-G-A			Likely benign (Dec 10, 2023)
9-96249787-C-T		Pseudohermaphroditism	Pathogenic (Apr 07, 2008)
9-96249788-T-C			Likely pathogenic (Oct 08, 2023)
9-96249995-C-T			Benign (Aug 08, 2018)
9-96250070-C-T			Benign (Aug 08, 2018)
9-96251195-G-A			Likely benign (Apr 20, 2019)
9-96251257-G-A			Likely benign (Jun 12, 2020)
9-96251334-C-T			Benign (Aug 08, 2018)
9-96251381-A-G		not specified	Benign (Mar 03, 2015)
9-96251399-C-T			Likely benign (Dec 12, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP