KCNMA1-AS1

KCNMA1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 10:76888044-76980624

Links

ENSG00000236467 ∙ NCBI:101929328 ∙ ∙ HGNC:51213 ∙ ∙ ∙ 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 KCNMA1-AS1 gene.

• Generalized epilepsy-paroxysmal dyskinesia syndrome (233 variants)
• not provided (116 variants)
• not specified (15 variants)
• Inborn genetic diseases (8 variants)
• KCNMA1-related condition (6 variants)
• Liang-Wang syndrome (5 variants)
• See cases (2 variants)
• Intellectual disability (2 variants)
• Generalized epilepsy-paroxysmal dyskinesia syndrome;Cerebellar atrophy, developmental delay, and seizures;Liang-Wang syndrome (1 variants)
• KCNMA1-related disorders (1 variants)
• Cerebellar atrophy, developmental delay, and seizures;Epilepsy, idiopathic generalized, susceptibility to, 16;Liang-Wang syndrome;Generalized epilepsy-paroxysmal dyskinesia syndrome (1 variants)
• Cerebellar atrophy, developmental delay, and seizures;Liang-Wang syndrome;Generalized epilepsy-paroxysmal dyskinesia syndrome (1 variants)
• Generalized epilepsy-paroxysmal dyskinesia syndrome;Cerebellar atrophy, developmental delay, and seizures (1 variants)
• Generalized epilepsy-paroxysmal dyskinesia syndrome;Epilepsy, idiopathic generalized, susceptibility to, 16;Cerebellar atrophy, developmental delay, and seizures;Liang-Wang syndrome (1 variants)
• Generalized epilepsy-paroxysmal dyskinesia syndrome;Cerebellar atrophy, developmental delay, and seizures;Liang-Wang syndrome;Epilepsy, idiopathic generalized, susceptibility to, 16 (1 variants)
• Seizure (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNMA1-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	5	4	117	163	23	312
Total	5	4	117	163	23

Variants in KCNMA1-AS1

This is a list of pathogenic ClinVar variants found in the KCNMA1-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
10-76889214-G-A			Benign (Jul 15, 2018)
10-76889434-T-G		Generalized epilepsy-paroxysmal dyskinesia syndrome	Likely benign (Sep 10, 2023)
10-76889455-T-G		Generalized epilepsy-paroxysmal dyskinesia syndrome	Uncertain significance (Aug 24, 2021)
10-76889468-G-A		Generalized epilepsy-paroxysmal dyskinesia syndrome	Likely benign (Jul 16, 2023)
10-76889469-G-C		not specified • Generalized epilepsy-paroxysmal dyskinesia syndrome • Generalized epilepsy-paroxysmal dyskinesia syndrome;Cerebellar atrophy, developmental delay, and seizures;Epilepsy, idiopathic generalized, susceptibility to, 16;Liang-Wang syndrome	Uncertain significance (Oct 10, 2023)
10-76889471-G-C		Generalized epilepsy-paroxysmal dyskinesia syndrome	Likely benign (Oct 03, 2017)
10-76889472-G-A		Generalized epilepsy-paroxysmal dyskinesia syndrome	Uncertain significance (Feb 24, 2022)
10-76889472-G-T		Generalized epilepsy-paroxysmal dyskinesia syndrome	Uncertain significance (Mar 04, 2022)
10-76889477-G-C		Generalized epilepsy-paroxysmal dyskinesia syndrome	Likely benign (Nov 27, 2023)
10-76889486-A-G		Generalized epilepsy-paroxysmal dyskinesia syndrome	Likely benign (Jun 20, 2023)
10-76889487-T-C			Uncertain significance (Nov 10, 2022)
10-76889492-C-T		Generalized epilepsy-paroxysmal dyskinesia syndrome	Likely benign (Aug 16, 2022)
10-76889496-C-T		Generalized epilepsy-paroxysmal dyskinesia syndrome	Uncertain significance (Oct 04, 2017)
10-76889497-G-A			Uncertain significance (Mar 06, 2020)
10-76889524-A-C		Generalized epilepsy-paroxysmal dyskinesia syndrome	Uncertain significance (Sep 27, 2023)
10-76889525-T-C			Likely benign (May 04, 2018)
10-76889549-A-G		Generalized epilepsy-paroxysmal dyskinesia syndrome	Likely benign (Oct 13, 2022)
10-76889555-A-G		Generalized epilepsy-paroxysmal dyskinesia syndrome	Likely benign (Jun 04, 2022)
10-76889559-C-A			Uncertain significance (Mar 28, 2023)
10-76889565-C-G			Uncertain significance (Apr 08, 2022)
10-76889567-A-G		Generalized epilepsy-paroxysmal dyskinesia syndrome	Likely benign (Aug 22, 2022)
10-76889584-A-C		Generalized epilepsy-paroxysmal dyskinesia syndrome	Likely benign (Dec 31, 2022)
10-76889586-G-T		Generalized epilepsy-paroxysmal dyskinesia syndrome	Likely benign (Nov 07, 2022)
10-76889641-C-T			Benign (Jul 15, 2018)
10-76889844-T-C			Benign (Jul 05, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP