chr9:135784064:G>A Detail (hg38) (KCNT1)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr9:138,675,910-138,675,910 View the variant detail on this assembly version.
hg38	chr9:135,784,064-135,784,064

HGVS

KCNT1

Type	Transcript	Protein
RefSeq	NM_020822.2:c.2882G>A	NP_065873.2:p.Arg961His
	NM_001272003.1:c.2747G>A	NP_001258932.1:p.Arg916His
Ensemble	ENST00000263604.5:c.2783G>A	ENST00000263604.5:p.Arg928His
	ENST00000371757.7:c.2882G>A	ENST00000371757.7:p.Arg961His
	ENST00000486577.6:c.2765G>A	ENST00000486577.6:p.Arg922His
	ENST00000487664.5:c.2882G>A	ENST00000487664.5:p.Arg961His
	ENST00000488444.6:c.2825G>A	ENST00000488444.6:p.Arg942His
	ENST00000490355.6:c.2819G>A	ENST00000490355.6:p.Arg940His
	ENST00000491806.6:c.2825G>A	ENST00000491806.6:p.Arg942His
	ENST00000628528.2:c.2747G>A	ENST00000628528.2:p.Arg916His
	ENST00000630792.2:c.2717G>A	ENST00000630792.2:p.Arg906His
	ENST00000631073.2:c.2825G>A	ENST00000631073.2:p.Arg942His
	ENST00000674572.1:c.2723G>A	ENST00000674572.1:p.Arg908His

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

Links

KCNT1

Type	Database	ID	Link
Gene	MIM	608167	OMIM
	HGNC	18865	HGNC
	Ensembl	ENSG00000107147	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2022-10-14	criteria provided, conflicting interpretations	not provided	germline	Detail
Uncertain significance	2016-11-16	criteria provided, single submitter	focal epilepsy	unknown	Detail
Pathogenic	2024-01-29	criteria provided, single submitter	autosomal dominant nocturnal frontal lobe epilepsy 5,Developmental and epileptic encephalopathy, 14	germline	Detail
Pathogenic	2024-01-29	criteria provided, single submitter	autosomal dominant nocturnal frontal lobe epilepsy 5,Developmental and epileptic encephalopathy, 14	germline	Detail
Conflicting interpretations of pathogenicity	2022-05-17	criteria provided, conflicting interpretations	Developmental and epileptic encephalopathy, 14	unknown	Detail
Uncertain significance	2017-11-03	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Likely pathogenic		criteria provided, single submitter	autosomal dominant nocturnal frontal lobe epilepsy 5	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) AND not provided	ClinVar	Detail
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) AND Focal epilepsy	ClinVar	Detail
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) AND multiple conditions	ClinVar	Detail
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) AND multiple conditions	ClinVar	Detail
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) AND Developmental and epileptic encephalopathy, 14	ClinVar	Detail
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) AND Inborn genetic diseases	ClinVar	Detail
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) AND Autosomal dominant nocturnal frontal lobe epilepsy 5	ClinVar	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs200694691 dbSNP
Genome: hg38
Position: chr9:135,784,064-135,784,064
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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