chr11:17409464:C>T Detail (hg19) (KCNJ11)

Information

Genome

Assembly Position
hg19 chr11:17,409,464-17,409,464
hg38 chr11:17,387,917-17,387,917 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000525.3:c.175G>A NP_000516.3:p.Val59Met
NM_001166290.1:c.-16-71G>A
Ensemble ENST00000339994.5:c.175G>A ENST00000339994.5:p.Val59Met
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
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
Pathogenic 2013-02-08 criteria provided, single submitter germline Detail
Pathogenic 2023-09-24 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic criteria provided, single submitter Neonatal diabetes mellitus germline Detail
Benign criteria provided, single submitter Transitory neonatal diabetes mellitus somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.569 DIABETES MELLITUS, PERMANENT NEONATAL NA CLINVAR Detail
0.149 Neonatal diabetes mellitus Here we characterize the channel properties of Kir6.2 mutations that underlie tr... BeFree 16123353 Detail
0.149 Neonatal diabetes mellitus In the absence of MgATP, gliclazide block was similar for wild-type channels and... BeFree 23835339 Detail
0.120 Neonatal insulin-dependent diabetes mellitus NA CLINVAR Detail
0.120 DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES NA CLINVAR Detail
0.010 epilepsy Recent studies have shown that heterozygous mutations in KCNJ11, which encodes K... BeFree 16087682 Detail
0.149 Neonatal diabetes mellitus Improved motor development and good long-term glycaemic control with sulfonylure... BeFree 17047922 Detail
<0.001 Epilepsy, Generalized Improved motor development and good long-term glycaemic control with sulfonylure... BeFree 17047922 Detail
0.002 Developmental delay (disorder) We report the response to sulfonylurea treatment in a boy with neonatal diabetes... BeFree 17047922 Detail
0.149 Neonatal diabetes mellitus We identified KCNJ11 mutations in four of 10 probands with permanent neonatal di... BeFree 16670688 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met) AND Diabetes mellitus, permanent neonatal 2 ClinVar Detail
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met) AND Permanent neonatal diabetes mellitus ClinVar Detail
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met) AND Neonatal insulin-dependent diabetes mellitus ClinVar Detail
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met) AND not provided ClinVar Detail
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met) AND Neonatal diabetes mellitus ClinVar Detail
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met) AND Transitory neonatal diabetes mellitus ClinVar Detail
NA DisGeNET Detail
Here we characterize the channel properties of Kir6.2 mutations that underlie transient neonatal dia... DisGeNET Detail
In the absence of MgATP, gliclazide block was similar for wild-type channels and those carrying the ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Recent studies have shown that heterozygous mutations in KCNJ11, which encodes Kir6.2, the pore-form... DisGeNET Detail
Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a pat... DisGeNET Detail
Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a pat... DisGeNET Detail
We report the response to sulfonylurea treatment in a boy with neonatal diabetes and marked developm... DisGeNET Detail
We identified KCNJ11 mutations in four of 10 probands with permanent neonatal diabetes and one affec... 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
rs80356616 dbSNP
Genome
hg19
Position
chr11:17,409,464-17,409,464
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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