KDM4A-AS1

KDM4A antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:43685123-43708138

Links

ENSG00000236200 ∙ NCBI:100132774 ∙ ∙ HGNC:40528 ∙ ∙ ∙ 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 KDM4A-AS1 gene.

• Inborn genetic diseases (12 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KDM4A-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			12	1	1	14
Total	0	0	12	1	1

Variants in KDM4A-AS1

This is a list of pathogenic ClinVar variants found in the KDM4A-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
1-43690857-G-A		not specified	Uncertain significance (Feb 07, 2023)
1-43690960-C-T		not specified	Uncertain significance (Aug 09, 2021)
1-43690969-A-G		not specified	Uncertain significance (Aug 02, 2022)
1-43690999-G-A		not specified	Uncertain significance (May 26, 2024)
1-43691013-G-A		not specified	Uncertain significance (Jun 11, 2024)
1-43691034-G-A		not specified	Uncertain significance (May 21, 2024)
1-43691514-C-T		not specified	Uncertain significance (Aug 03, 2022)
1-43691521-G-T		not specified	Uncertain significance (Sep 07, 2022)
1-43691553-C-T		not specified	Uncertain significance (Jan 02, 2024)
1-43693994-G-A		not specified	Likely benign (Jun 30, 2024)
1-43694054-A-T		not specified	Uncertain significance (Nov 11, 2024)
1-43694734-G-A		not specified	Uncertain significance (Aug 07, 2024)
1-43694758-T-C		not specified	Uncertain significance (Nov 17, 2022)
1-43697847-C-T		not specified	Uncertain significance (Feb 15, 2023)
1-43697870-A-T		not specified	Uncertain significance (Aug 17, 2021)
1-43697873-G-A		not specified	Uncertain significance (Jun 06, 2023)
1-43697906-G-A		not specified	Uncertain significance (Jan 02, 2024)
1-43697934-G-T		not specified	Uncertain significance (May 11, 2022)
1-43697942-A-G		not specified	Uncertain significance (Jul 19, 2022)
1-43703667-A-T		not specified	Uncertain significance (Feb 05, 2024)
1-43703696-G-C		not specified	Uncertain significance (Aug 14, 2024)
1-43703697-A-G			Likely benign (May 14, 2018)
1-43703746-G-A			Benign (Aug 02, 2017)
1-43704275-G-C		not specified	Uncertain significance (Sep 12, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP