chr11:17409490:C>G Detail (hg19) (KCNJ11)

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

Genome

Assembly	Position
hg19	chr11:17,409,490-17,409,490
hg38	chr11:17,387,943-17,387,943 View the variant detail on this assembly version.

HGVS

KCNJ11

Type	Transcript	Protein
RefSeq	NM_000525.3:c.149G>C	NP_000516.3:p.Arg50Pro
	NM_001166290.1:c.-16-97G>C
Ensemble	ENST00000682350.1:c.-16-97G>C
	ENST00000682764.1:c.-16-97G>C
	ENST00000339994.5:c.149G>C	ENST00000339994.5:p.Arg50Pro
	ENST00000528731.1:c.-16-97G>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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
not provided		no assertion provided	permanent neonatal diabetes mellitus	unknown	Detail
Pathogenic	2005-01-01	no assertion criteria provided	Diabetes mellitus, permanent neonatal 2	germline	Detail
Pathogenic		criteria provided, single submitter	KCNJ11-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.149	Neonatal diabetes mellitus	NA	CLINVAR		Detail
0.569	DIABETES MELLITUS, PERMANENT NEONATAL	NA	CLINVAR		Detail
0.201	Seizures	Successful transition to sulfonylurea in neonatal diabetes, developmental delay,...	BeFree	25678012	Detail
0.002	Developmental Delay, Epilepsy, and Neonatal Diabetes	In this study, we present a case of developmental delay, epilepsy and neonatal d...	BeFree	25739471	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000525.4(KCNJ11):c.149G>C (p.Arg50Pro) AND Permanent neonatal diabetes mellitus	ClinVar	Detail
NM_000525.4(KCNJ11):c.149G>C (p.Arg50Pro) AND Diabetes mellitus, permanent neonatal 2	ClinVar	Detail
NM_000525.4(KCNJ11):c.149G>C (p.Arg50Pro) AND KCNJ11-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND ...	DisGeNET	Detail
In this study, we present a case of developmental delay, epilepsy and neonatal diabetes (DEND) syndr...	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: rs80356611 dbSNP
Genome: hg19
Position: chr11:17,409,490-17,409,490
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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