HPN-AS1

HPN antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 19:35027447-35106898

Links

ENSG00000227392 ∙ NCBI:100128675 ∙ ∙ HGNC:47041 ∙ ∙ ∙ 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 HPN-AS1 gene.

• Inborn genetic diseases (9 variants)
• not provided (3 variants)
• Gestational diabetes mellitus uncontrolled (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HPN-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			9		3	12
Total	0	0	9	0	3

Variants in HPN-AS1

This is a list of pathogenic ClinVar variants found in the HPN-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
19-35030437-GGCCGCCGCC-G			Likely benign (Nov 13, 2019)
19-35030437-GGCCGCCGCCGCC-G			Likely benign (Nov 13, 2019)
19-35030437-G-GGCC			Benign (Aug 10, 2019)
19-35030556-G-A			Likely benign (Jun 26, 2018)
19-35030595-C-T			Likely benign (Jun 14, 2018)
19-35030689-C-G		Generalized epilepsy with febrile seizures plus, type 1 • Brugada syndrome 5	Uncertain significance (Jan 13, 2018)
19-35030698-A-T		Brugada syndrome 5 • Generalized epilepsy with febrile seizures plus, type 1	Uncertain significance (Jan 13, 2018)
19-35030726-C-T		Generalized epilepsy with febrile seizures plus, type 1 • Brugada syndrome 5	Benign/Likely benign (Jan 12, 2018)
19-35030728-G-C		Brugada syndrome 5 • Generalized epilepsy with febrile seizures plus, type 1	Uncertain significance (Jan 13, 2018)
19-35030733-A-C		Generalized epilepsy with febrile seizures plus, type 1 • Brugada syndrome 5 • Generalized epilepsy with febrile seizures plus, type 1;Atrial fibrillation, familial, 13;Developmental and epileptic encephalopathy, 52;Brugada syndrome 5	Uncertain significance (Dec 28, 2021)
19-35030749-G-A		Brugada syndrome 5 • Generalized epilepsy with febrile seizures plus, type 1	Uncertain significance (Jan 13, 2018)
19-35030780-C-G		not specified	Likely benign (Nov 20, 2017)
19-35030781-C-G		not specified	Benign (Mar 14, 2014)
19-35030790-G-A		not specified • Brugada syndrome 5 • Generalized epilepsy with febrile seizures plus, type 1	Conflicting classifications of pathogenicity (Mar 02, 2018)
19-35030794-G-C		Generalized epilepsy with febrile seizures plus, type 1 • Brugada syndrome 5	Benign (Jan 13, 2018)
19-35030794-G-T		not specified	Likely benign (Aug 09, 2012)
19-35030795-G-C		not specified	Likely benign (Oct 21, 2015)
19-35030812-C-A		not specified • Generalized epilepsy with febrile seizures plus, type 1 • Brugada syndrome 5	Benign/Likely benign (Jan 13, 2018)
19-35030820-C-A		Cardiovascular phenotype	Uncertain significance (Oct 16, 2023)
19-35030820-C-T		not specified • Cardiovascular phenotype	Uncertain significance (Jan 09, 2024)
19-35030821-A-C		Brugada syndrome 5 • Cardiovascular phenotype • not specified	Conflicting classifications of pathogenicity (Jan 03, 2024)
19-35030822-T-C		Brugada syndrome 5	Conflicting classifications of pathogenicity (Dec 17, 2022)
19-35030823-G-A		Brugada syndrome 5	Pathogenic (Jan 02, 2023)
19-35030823-G-C		Brugada syndrome 5	Conflicting classifications of pathogenicity (Apr 06, 2023)
19-35030825-G-T		Brugada syndrome 5	Uncertain significance (Jun 18, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP