KCNMA1-AS1

KCNMA1 antisense RNA 1, the group of Antisense RNAs

Basic information

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 ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)						0
non coding ? UTR, intron and other, non coding variants	5 clinvar	4 clinvar	117 clinvar	163 clinvar	23 clinvar	312
Total	5	4	117	163	23

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP