KIZ-AS1

KIZ antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 20:21154023-21218289

Links

ENSG00000232712 ∙ NCBI:101929591 ∙ ∙ HGNC:51231 ∙ ∙ ∙ 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 KIZ-AS1 gene.

• not provided (217 variants)
• Inborn genetic diseases (15 variants)
• Retinitis pigmentosa 69 (2 variants)
• Retinal dystrophy (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIZ-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)	1		1			2
splice region						0
non coding	12	9	134	53	14	222
Total	13	9	135	53	14

Highest pathogenic variant AF is 0.000119

Variants in KIZ-AS1

This is a list of pathogenic ClinVar variants found in the KIZ-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
20-21161877-G-A			Uncertain significance (Jun 07, 2021)
20-21161881-AC-GG			Uncertain significance (Aug 22, 2019)
20-21161882-C-G		Retinal dystrophy	Benign (Jan 31, 2024)
20-21161882-C-T		KIZ-related disorder	Likely benign (Oct 03, 2023)
20-21161884-A-C			Uncertain significance (Sep 01, 2022)
20-21161891-T-C			Likely benign (Jul 05, 2022)
20-21161907-A-G			Uncertain significance (Jul 17, 2023)
20-21161908-T-C			Uncertain significance (Sep 01, 2021)
20-21161909-G-A		not specified	Uncertain significance (Jun 12, 2023)
20-21161931-G-C		not specified	Uncertain significance (Dec 11, 2023)
20-21161938-T-C		not specified	Uncertain significance (Dec 05, 2024)
20-21161942-T-A		not specified	Uncertain significance (Sep 06, 2022)
20-21161942-T-C			Likely benign (Apr 06, 2020)
20-21161943-A-G			Uncertain significance (Dec 19, 2021)
20-21161949-C-T			Uncertain significance (Jun 25, 2022)
20-21161950-G-A			Uncertain significance (Oct 17, 2022)
20-21161952-CA-C			Pathogenic (Jul 31, 2023)
20-21161954-A-C			Uncertain significance (Aug 22, 2022)
20-21161956-T-G			Uncertain significance (Jan 27, 2020)
20-21161964-A-G			Uncertain significance (Sep 26, 2022)
20-21161970-A-G			Uncertain significance (Jan 08, 2024)
20-21161974-T-G			Benign (Jan 29, 2024)
20-21161979-G-C			Uncertain significance (Feb 20, 2022)
20-21161996-C-G			Uncertain significance (Jul 18, 2022)
20-21161998-A-G		not specified	Uncertain significance (Jul 05, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP