HIPK1-AS1

HIPK1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:113911900-113929551

Links

ENSG00000235527 ∙ NCBI:101928846 ∙ ∙ HGNC:50576 ∙ ∙ ∙ 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 HIPK1-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HIPK1-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						0
Total	0	0	0	0	0

Variants in HIPK1-AS1

This is a list of pathogenic ClinVar variants found in the HIPK1-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
1-113911931-A-T		Hoyeraal-Hreidarsson syndrome;Autosomal recessive dyskeratosis congenita	Uncertain significance (Nov 12, 2019)
1-113911934-A-C		Autosomal recessive dyskeratosis congenita;Hoyeraal-Hreidarsson syndrome	Likely benign (Jul 09, 2020)
1-113911934-A-T		not specified	Uncertain significance (Apr 13, 2023)
1-113911939-G-T		Hoyeraal-Hreidarsson syndrome;Autosomal recessive dyskeratosis congenita	Uncertain significance (May 26, 2021)
1-113911952-G-A		Hoyeraal-Hreidarsson syndrome;Autosomal recessive dyskeratosis congenita	Uncertain significance (Nov 07, 2019)
1-113911954-G-A		DCLRE1B-related disorder	Likely benign (Sep 17, 2019)
1-113911960-C-T		Hoyeraal-Hreidarsson syndrome;Autosomal recessive dyskeratosis congenita	Likely benign (May 02, 2019)
1-113911967-C-G		Hoyeraal-Hreidarsson syndrome;Autosomal recessive dyskeratosis congenita	Uncertain significance (Sep 01, 2021)
1-113911976-G-A		Hoyeraal-Hreidarsson syndrome;Autosomal recessive dyskeratosis congenita	Benign (Dec 08, 2022)
1-113912025-G-T		Hoyeraal-Hreidarsson syndrome;Autosomal recessive dyskeratosis congenita	Uncertain significance (Mar 09, 2020)
1-113912026-C-T		Autosomal recessive dyskeratosis congenita;Hoyeraal-Hreidarsson syndrome	Likely benign (Sep 29, 2019)
1-113912036-C-T		not specified	Uncertain significance (Aug 02, 2021)
1-113912040-T-C		not specified	Likely benign (Dec 06, 2022)
1-113912047-C-T		Hoyeraal-Hreidarsson syndrome;Autosomal recessive dyskeratosis congenita	Likely benign (Nov 01, 2018)
1-113912047-C-CA		Hoyeraal-Hreidarsson syndrome;Autosomal recessive dyskeratosis congenita	Uncertain significance (Dec 27, 2017)
1-113912053-C-G		Hoyeraal-Hreidarsson syndrome;Autosomal recessive dyskeratosis congenita	Uncertain significance (Aug 30, 2021)
1-113912092-A-C		Hoyeraal-Hreidarsson syndrome;Autosomal recessive dyskeratosis congenita	Likely benign (Oct 24, 2019)
1-113912096-C-T		not specified	Uncertain significance (Jun 18, 2024)
1-113912111-A-T		Autosomal recessive dyskeratosis congenita;Hoyeraal-Hreidarsson syndrome	Uncertain significance (Oct 17, 2022)
1-113912120-A-T		Autosomal recessive dyskeratosis congenita;Hoyeraal-Hreidarsson syndrome • DCLRE1B-related disorder	Benign (Aug 04, 2023)
1-113912137-G-T		DCLRE1B-related disorder	Likely benign (May 28, 2019)
1-113912178-A-G		not specified	Uncertain significance (Dec 07, 2021)
1-113912189-T-C		Hoyeraal-Hreidarsson syndrome;Autosomal recessive dyskeratosis congenita	Uncertain significance (Sep 01, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP