chr11:17408831:G>C Detail (hg19) (KCNJ11)

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

Information

Genome

Assembly	Position
hg19	chr11:17,408,831-17,408,831
hg38	chr11:17,387,284-17,387,284 View the variant detail on this assembly version.

HGVS

KCNJ11

Type	Transcript	Protein
RefSeq	NM_000525.3:c.808C>G	NP_000516.3:p.Leu270Val
	NM_001166290.1:c.547C>G	NP_001159762.1:p.Leu183Val
Ensemble	ENST00000339994.5:c.808C>G	ENST00000339994.5:p.Leu270Val
	ENST00000682350.1:c.547C>G	ENST00000682350.1:p.Leu183Val
	ENST00000682764.1:c.547C>G	ENST00000682764.1:p.Leu183Val
	ENST00000528731.1:c.547C>G	ENST00000528731.1:p.Leu183Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
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Links

KCNJ11

Type	Database	ID	Link
Gene	MIM	600937	OMIM
	HGNC	6257	HGNC
	Ensembl	ENSG00000187486	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
Benign	2016-03-25	criteria provided, multiple submitters, no conflicts	not specified	germline	Detail
Benign	2021-07-01	criteria provided, multiple submitters, no conflicts	Diabetes mellitus, transient neonatal, 3	germline	Detail
Benign	2018-01-13	criteria provided, single submitter	maturity-onset diabetes of the young type 13	germline	Detail
Benign	2019-02-22	criteria provided, single submitter	Monogenic diabetes	unknown	Detail
Benign Likely benign	2021-07-01	criteria provided, multiple submitters, no conflicts	Hyperinsulinemic hypoglycemia, familial, 2	germline	Detail
Benign	2020-09-16	no assertion criteria provided	permanent neonatal diabetes mellitus	germline	Detail
Benign	2024-02-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Benign	2021-07-01	criteria provided, single submitter	Diabetes mellitus, permanent neonatal 2	germline	Detail
Uncertain significance		criteria provided, single submitter	Maturity onset diabetes mellitus in young	somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Diabetes Mellitus, Non-Insulin-Dependent	Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 ...	BeFree	25733456	Detail
<0.001	Diabetes Mellitus, Non-Insulin-Dependent	Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 ...	BeFree	25733456	Detail
<0.001	Diabetes Mellitus, Non-Insulin-Dependent	Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 ...	BeFree	25733456	Detail
0.466	Diabetes Mellitus, Non-Insulin-Dependent	Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 ...	BeFree	25733456	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) AND not specified	ClinVar	Detail
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) AND Diabetes mellitus, transient neonatal, 3	ClinVar	Detail
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) AND Maturity-onset diabetes of the young type 13	ClinVar	Detail
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) AND Monogenic diabetes	ClinVar	Detail
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) AND Hyperinsulinemic hypoglycemia, familial, 2	ClinVar	Detail
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) AND Permanent neonatal diabetes mellitus	ClinVar	Detail
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) AND not provided	ClinVar	Detail
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) AND Diabetes mellitus, permanent neonatal 2	ClinVar	Detail
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) AND Maturity onset diabetes mellitus in young	ClinVar	Detail
Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 g/d), 4 SNP signals ...	DisGeNET	Detail
Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 g/d), 4 SNP signals ...	DisGeNET	Detail
Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 g/d), 4 SNP signals ...	DisGeNET	Detail
Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 g/d), 4 SNP signals ...	DisGeNET	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: rs1800467 dbSNP
Genome: hg19
Position: chr11:17,408,831-17,408,831
Variant Type: snv
Reference Allele: G
Alternative Allele: C
East Asian Chromosome Counts (ExAC): 8652
East Asian Allele Counts (ExAC): 2
East Asian Heterozygous Counts (ExAC): 2
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 2.311604253351826E-4
Chromosome Counts in All Race (ExAC): 121360
Allele Counts in All Race (ExAC): 4537
Heterozygous Counts in All Race (ExAC): 4263
Homozygous Counts in All Race (ExAC): 137
Allele Frequency in All Race (ExAC): 0.03738464073829927

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