HRG-AS1

HRG and FETUB antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:186579476-186772986

Links

ENSG00000197099 ∙ NCBI:105374258 ∙ ∙ HGNC:55915 ∙ ∙ ∙ 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 HRG-AS1 gene.

• not provided (99 variants)
• Inborn genetic diseases (90 variants)
• Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency (10 variants)
• High molecular weight kininogen deficiency (9 variants)
• Alopecia-intellectual disability syndrome 1 (6 variants)
• Polycystic kidney disease 6 with or without polycystic liver disease (4 variants)
• not specified (3 variants)
• Angioedema, hereditary, 6 (3 variants)
• Leanness, susceptibility to (3 variants)
• Thrombus (2 variants)
• Calcium oxalate nephrolithiasis (2 variants)
• Hereditary angioedema with normal C1Inh (2 variants)
• Familial early-onset deep venous thrombosis (1 variants)
• Enlarged kidney;Multiple renal cysts;Anhydramnios (1 variants)
• Kininogen deficiency, total (1 variants)
• DNAJB11-related condition (1 variants)
• Abnormal bleeding;Thrombocytopenia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HRG-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	13	2	109	50	47	221
Total	13	2	109	50	47

Highest pathogenic variant AF is 0.0000789

Variants in HRG-AS1

This is a list of pathogenic ClinVar variants found in the HRG-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
3-186581318-G-A			Benign (May 11, 2021)
3-186581368-T-G			Uncertain significance (Feb 03, 2022)
3-186581382-C-G			Uncertain significance (Sep 27, 2022)
3-186581390-T-C		Inborn genetic diseases	Uncertain significance (Jan 22, 2024)
3-186581392-GC-G		Polycystic kidney disease 6 with or without polycystic liver disease	Pathogenic (Jul 27, 2018)
3-186581401-G-T		Inborn genetic diseases	Uncertain significance (Jan 17, 2023)
3-186581441-G-A		Inborn genetic diseases	Uncertain significance (Mar 15, 2023)
3-186581451-GCTGGGCC-G		Polycystic kidney disease 6 with or without polycystic liver disease	Likely pathogenic (May 13, 2024)
3-186581493-C-T		DNAJB11-related disorder	Likely benign (Mar 13, 2019)
3-186581496-C-T		DNAJB11-related disorder	Likely benign (Mar 19, 2022)
3-186581497-G-C		Inborn genetic diseases	Uncertain significance (Nov 16, 2021)
3-186581825-G-A			Benign (May 11, 2021)
3-186581988-A-G		Polycystic kidney disease 6 with or without polycystic liver disease	Uncertain significance (Apr 28, 2023)
3-186581993-A-C		Enlarged kidney;Multiple renal cysts;Anhydramnios	Likely pathogenic (Dec 15, 2021)
3-186582011-C-T		Polycystic kidney disease 6 with or without polycystic liver disease	Pathogenic (Jul 17, 2023)
3-186582028-AAT-A		Polycystic kidney disease 6 with or without polycystic liver disease	Likely pathogenic (Sep 01, 2023)
3-186582051-G-C		DNAJB11-related disorder	Uncertain significance (Aug 02, 2024)
3-186582077-G-T			Uncertain significance (Feb 13, 2023)
3-186582095-G-C			Benign (May 23, 2023)
3-186582116-T-C			Benign (May 11, 2021)
3-186582708-C-G		DNAJB11-related disorder	Benign (Jan 26, 2024)
3-186582718-G-A		DNAJB11-related disorder	Uncertain significance (Dec 06, 2023)
3-186582726-C-G		Inborn genetic diseases	Uncertain significance (Oct 26, 2021)
3-186582738-G-T			Uncertain significance (Mar 20, 2023)
3-186582757-C-T		Inborn genetic diseases	Pathogenic (Apr 27, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP