HNRNPK-AS1

HNRNPK antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 9:83956558-83975777

Links

ENSG00000235298 ∙ ∙ ∙ HGNC:56061 ∙ ∙ ∙ 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 HNRNPK-AS1 gene.

• not provided (33 variants)
• Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation (17 variants)
• Inborn genetic diseases (3 variants)
• HNRNPK-related condition (1 variants)
• Generalized hypotonia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HNRNPK-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	8	12	10	8	12	50
Total	8	12	10	8	12

Variants in HNRNPK-AS1

This is a list of pathogenic ClinVar variants found in the HNRNPK-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
9-83967562-A-G			Uncertain significance (Aug 25, 2022)
9-83969358-A-G			Uncertain significance (Jul 10, 2019)
9-83969432-T-C			Uncertain significance (Jun 10, 2022)
9-83969444-TAAAAG-T			Likely benign (Feb 14, 2023)
9-83969444-T-TAA			Likely benign (Dec 06, 2023)
9-83969454-GA-G			Benign (Jan 20, 2024)
9-83969454-G-GA			Benign (Sep 04, 2023)
9-83969456-A-G			Likely benign (Oct 24, 2022)
9-83969988-A-G			Benign (May 12, 2021)
9-83969995-G-GT			Benign (May 15, 2021)
9-83970155-A-C		Au-Kline syndrome	Conflicting classifications of pathogenicity (Mar 12, 2024)
9-83970161-C-T		Au-Kline syndrome	Pathogenic (Jul 20, 2023)
9-83970164-G-C		Au-Kline syndrome	Uncertain significance (Mar 12, 2021)
9-83970197-G-A			Likely benign (Dec 18, 2023)
9-83970226-G-T			Likely benign (Aug 10, 2023)
9-83970228-TC-T		Intellectual disability	Pathogenic (Oct 16, 2020)
9-83970233-G-A			Likely benign (Dec 19, 2023)
9-83970241-C-T		Au-Kline syndrome	Likely pathogenic (-)
9-83970250-C-A			Likely pathogenic (Oct 23, 2020)
9-83970263-C-T			Likely benign (Jan 12, 2024)
9-83970272-C-T			Likely benign (Aug 09, 2022)
9-83970273-G-T			Pathogenic (Jul 07, 2016)
9-83970282-CG-C			Pathogenic (Apr 17, 2023)
9-83970283-G-A		Au-Kline syndrome	Pathogenic (May 04, 2022)
9-83970287-T-C			Likely benign (Jun 03, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP