KCNQ5-AS1

KCNQ5 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 6:73130646-73143515

Links

ENSG00000229154 ∙ ∙ ∙ HGNC:40323 ∙ ∙ ∙ 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 KCNQ5-AS1 gene.

• not provided (33 variants)
• Inborn genetic diseases (5 variants)
• Intellectual disability, autosomal dominant 46 (3 variants)
• not specified (1 variants)
• Intellectual disability, mild (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNQ5-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	1	2	15	19	3	40
Total	1	2	15	19	3

Variants in KCNQ5-AS1

This is a list of pathogenic ClinVar variants found in the KCNQ5-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
6-73133406-C-A			Likely benign (Dec 01, 2022)
6-73133415-C-T			Likely benign (Aug 17, 2023)
6-73133416-C-T			Likely benign (Sep 04, 2023)
6-73133422-C-A			Uncertain significance (Apr 19, 2021)
6-73133424-G-A			Uncertain significance (Dec 28, 2022)
6-73133427-G-A			Likely benign (Dec 14, 2023)
6-73133443-C-T		Inborn genetic diseases	Uncertain significance (Mar 10, 2021)
6-73133445-A-G			Likely benign (May 16, 2023)
6-73133450-G-A			Uncertain significance (Aug 26, 2021)
6-73133455-G-A		Inborn genetic diseases	Uncertain significance (Aug 25, 2023)
6-73133459-G-T		Intellectual disability, autosomal dominant 46	Pathogenic (Dec 13, 2017)
6-73133460-C-A		Inborn genetic diseases	Likely pathogenic (Sep 15, 2022)
6-73133464-A-T		Intellectual disability, autosomal dominant 46	Likely pathogenic (Apr 03, 2020)
6-73133468-G-T			Benign (Nov 28, 2023)
6-73133472-G-A			Likely benign (Dec 31, 2021)
6-73133474-G-C			Uncertain significance (Oct 29, 2023)
6-73133477-T-A			Conflicting classifications of pathogenicity (Jan 01, 2023)
6-73133481-G-A			Likely benign (Dec 07, 2023)
6-73133484-C-T			Benign (Jul 01, 2024)
6-73133485-C-G		Intellectual disability, autosomal dominant 46	Conflicting classifications of pathogenicity (Jan 12, 2024)
6-73133485-C-T		Intellectual disability, autosomal dominant 46	Uncertain significance (Aug 14, 2020)
6-73133486-G-A		Inborn genetic diseases	Uncertain significance (Jun 24, 2022)
6-73133488-C-G			Uncertain significance (May 28, 2023)
6-73133499-A-G			Likely benign (Apr 24, 2023)
6-73133502-T-C			Likely benign (Nov 24, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP