chr11:17409142:C>A Detail (hg19) (KCNJ11)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr11:17,409,142-17,409,142
hg38	chr11:17,387,595-17,387,595 View the variant detail on this assembly version.

HGVS

KCNJ11

Type	Transcript	Protein
RefSeq	NM_000525.3:c.497G>T	NP_000516.3:p.Cys166Phe
	NM_001166290.1:c.236G>T	NP_001159762.1:p.Cys79Phe
Ensemble	ENST00000682350.1:c.236G>T	ENST00000682350.1:p.Cys79Phe
	ENST00000682764.1:c.236G>T	ENST00000682764.1:p.Cys79Phe
	ENST00000339994.5:c.497G>T	ENST00000339994.5:p.Cys166Phe
	ENST00000528731.1:c.236G>T	ENST00000528731.1:p.Cys79Phe

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	drug response
Review star
Show details

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
Pathogenic	2006-07-01	no assertion criteria provided	Diabetes mellitus, permanent neonatal 2	germline	Detail
not provided		no assertion provided	permanent neonatal diabetes mellitus	unknown	Detail
drug response		criteria provided, single submitter		somatic	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.569	DIABETES MELLITUS, PERMANENT NEONATAL	NA	CLINVAR		Detail
0.120	DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES	NA	CLINVAR		Detail
0.149	Neonatal diabetes mellitus	We identified KCNJ11 mutations in four of 10 probands with permanent neonatal di...	BeFree	16670688	Detail
0.569	DIABETES MELLITUS, PERMANENT NEONATAL	Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diab...	BeFree	19169493	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000525.4(KCNJ11):c.497G>T (p.Cys166Phe) AND Diabetes mellitus, permanent neonatal 2	ClinVar	Detail
NM_000525.4(KCNJ11):c.497G>T (p.Cys166Phe) AND Permanent neonatal diabetes mellitus	ClinVar	Detail
NM_000525.4(KCNJ11):c.497G>T (p.Cys166Phe) AND Glibenclamide response	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
We identified KCNJ11 mutations in four of 10 probands with permanent neonatal diabetes and one affec...	DisGeNET	Detail
Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DE...	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: rs80356618 dbSNP
Genome: hg19
Position: chr11:17,409,142-17,409,142
Variant Type: snv
Reference Allele: C
Alternative Allele: A

Genome browser