HSD11B1-AS1

HSD11B1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:209661354-209757643

Links

ENSG00000227591 ∙ NCBI:101930114 ∙ ∙ HGNC:54053 ∙ ∙ ∙ 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 HSD11B1-AS1 gene.

• Inborn genetic diseases (8 variants)
• Cortisone reductase deficiency 2 (2 variants)
• not provided (2 variants)
• - (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HSD11B1-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		8	1	2	12
Total	1	0	8	1	2

Highest pathogenic variant AF is 0.0000131

Variants in HSD11B1-AS1

This is a list of pathogenic ClinVar variants found in the HSD11B1-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
1-209675700-G-A		not specified	Uncertain significance (Feb 14, 2023)
1-209675729-G-A		not specified	Uncertain significance (Jun 13, 2024)
1-209675815-A-T		not specified	Uncertain significance (Jan 30, 2024)
1-209675841-G-A		not specified	Uncertain significance (Feb 16, 2023)
1-209675858-C-A		not specified	Uncertain significance (Jun 23, 2021)
1-209675958-G-A		not specified	Uncertain significance (Aug 01, 2022)
1-209675961-G-A		not specified	Likely benign (Sep 01, 2021)
1-209704971-C-T		not specified	Uncertain significance (Feb 14, 2023)
1-209705839-C-T			Benign (Dec 31, 2019)
1-209705887-G-A		HSD11B1-related disorder	Benign (Dec 16, 2019)
1-209706751-T-C		not specified	Uncertain significance (Nov 06, 2023)
1-209706778-A-T		not specified	Uncertain significance (Feb 17, 2024)
1-209706809-G-C		not specified	Uncertain significance (May 31, 2023)
1-209706871-C-CA		Cortisone reductase deficiency 2	Benign (Jan 23, 2024)
1-209706914-T-G		Cortisone reductase deficiency 2	Benign (-)
1-209706972-A-G		not specified	Uncertain significance (May 13, 2024)
1-209707018-T-A		not specified	Uncertain significance (Dec 21, 2023)
1-209707020-C-T		Cortisone reductase deficiency 2	Pathogenic (Mar 08, 2011)
1-209707093-G-A		not specified	Uncertain significance (Aug 08, 2022)
1-209707113-G-A		not specified	Uncertain significance (Jul 20, 2021)
1-209707136-G-A			Uncertain significance (May 05, 2020)
1-209732427-G-A			Benign (Dec 31, 2019)
1-209732479-G-T		Cortisone reductase deficiency 2	Pathogenic (Mar 08, 2011)
1-209732565-G-C		not specified	Uncertain significance (Jun 29, 2023)
1-209734320-A-AT		Exstrophy-epispadias complex	Uncertain significance (-)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP