KCNJ6-AS1

KCNJ6 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 21:37644927-37740702

Previous symbols: [ "KCNJ6-IT1" ]

Links

ENSG00000292434 ∙ ∙ ∙ HGNC:41352 ∙ ∙ ∙ 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 KCNJ6-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNJ6-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 KCNJ6-AS1

This is a list of pathogenic ClinVar variants found in the KCNJ6-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
21-37714194-G-A			Benign (Jun 22, 2023)
21-37714203-C-T			Likely benign (Sep 07, 2022)
21-37714221-C-G			Likely benign (Jul 13, 2022)
21-37714329-C-T			Likely benign (Apr 12, 2023)
21-37714332-T-C			Likely benign (Aug 01, 2018)
21-37714348-C-T			Uncertain significance (Nov 15, 2022)
21-37714359-C-T			Benign (May 11, 2023)
21-37714360-G-A			Uncertain significance (Dec 22, 2021)
21-37714384-G-A			Uncertain significance (Jul 19, 2022)
21-37714407-C-T			Likely benign (Apr 06, 2018)
21-37714413-C-T			Likely benign (Dec 02, 2021)
21-37714419-C-G		Inborn genetic diseases	Uncertain significance (Oct 19, 2021)
21-37714455-CT-C			Uncertain significance (Jun 26, 2021)
21-37714467-G-A		KCNJ6-related disorder	Likely benign (Jan 17, 2024)
21-37714488-C-A			Likely benign (Oct 29, 2023)
21-37714490-G-A		not specified	Uncertain significance (Feb 08, 2024)
21-37714573-T-G			Uncertain significance (May 09, 2023)
21-37714596-T-A			Likely benign (Jun 26, 2022)
21-37714635-T-C			Likely benign (Mar 27, 2022)
21-37714645-A-C		Keppen-Lubinsky syndrome	Likely pathogenic (-)
21-37714662-T-C		Keppen-Lubinsky syndrome	Benign (Jan 30, 2024)
21-37714666-C-A			Uncertain significance (Mar 22, 2023)
21-37714697-C-T		Keppen-Lubinsky syndrome • See cases	Likely pathogenic (Dec 21, 2022)
21-37714699-ATGG-A		Keppen-Lubinsky syndrome	Pathogenic (Feb 05, 2015)
21-37714702-G-A			Uncertain significance (Dec 15, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP