chr11:17387490:C>T Detail (hg38) (KCNJ11)

Information

Genome

Assembly Position
hg19 chr11:17,409,037-17,409,037 View the variant detail on this assembly version.
hg38 chr11:17,387,490-17,387,490

HGVS

Type Transcript Protein
RefSeq NM_000525.3:c.602G>A NP_000516.3:p.Arg201His
NM_001166290.1:c.341G>A NP_001159762.1:p.Arg114His
Ensemble ENST00000339994.5:c.602G>A ENST00000339994.5:p.Arg201His
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
not provided no assertion provided permanent neonatal diabetes mellitus unknown Detail
Pathogenic 2006-07-01 no assertion criteria provided Diabetes mellitus, transient neonatal, 3 germline Detail
Pathogenic 2013-05-03 criteria provided, single submitter germline Detail
Pathogenic 2024-01-05 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic criteria provided, single submitter Diabetes mellitus, permanent neonatal 2 germline Detail
Pathogenic criteria provided, single submitter Neonatal diabetes mellitus germline Detail
Uncertain significance 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 Neonatal insulin-dependent diabetes mellitus NA CLINVAR Detail
0.120 DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES NA CLINVAR Detail
0.360 DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder) 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 We identified KCNJ11 mutations in four of 10 probands with permanent neonatal di... BeFree 16670688 Detail
0.569 DIABETES MELLITUS, PERMANENT NEONATAL By tagging the PNDM Kir6.2 mutant V59G or R201H with an additional mutation, N16... BeFree 16731837 Detail
0.149 Neonatal diabetes mellitus Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celia... BeFree 19345438 Detail
0.569 DIABETES MELLITUS, PERMANENT NEONATAL Unsuccessful switch from insulin to sulfonylurea therapy in permanent neonatal d... BeFree 23434183 Detail
<0.001 celiac disease Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celia... BeFree 19345438 Detail
0.568 DIABETES MELLITUS, PERMANENT NEONATAL We describe a 3-year-old girl with permanent neonatal diabetes mellitus with a m... BeFree 20220270 Detail
0.568 DIABETES MELLITUS, PERMANENT NEONATAL Unsuccessful switch from insulin to sulfonylurea therapy in permanent neonatal d... BeFree 23434183 Detail
0.569 DIABETES MELLITUS, PERMANENT NEONATAL We describe a 3-year-old girl with permanent neonatal diabetes mellitus with a m... BeFree 20220270 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) AND Permanent neonatal diabetes mellitus ClinVar Detail
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) AND Diabetes mellitus, transient neonatal, 3 ClinVar Detail
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) AND Neonatal insulin-dependent diabetes mellitus ClinVar Detail
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) AND not provided ClinVar Detail
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) AND Diabetes mellitus, permanent neonatal 2 ClinVar Detail
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) AND Neonatal diabetes mellitus ClinVar Detail
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) AND Hyperinsulinemia ClinVar Detail
NA DisGeNET Detail
NA 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
We identified KCNJ11 mutations in four of 10 probands with permanent neonatal diabetes and one affec... DisGeNET Detail
By tagging the PNDM Kir6.2 mutant V59G or R201H with an additional mutation, N160D, that confers vol... DisGeNET Detail
Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celiac disease: impact of... DisGeNET Detail
Unsuccessful switch from insulin to sulfonylurea therapy in permanent neonatal diabetes mellitus due... DisGeNET Detail
Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celiac disease: impact of... DisGeNET Detail
We describe a 3-year-old girl with permanent neonatal diabetes mellitus with a mutation in the KCNJ1... DisGeNET Detail
Unsuccessful switch from insulin to sulfonylurea therapy in permanent neonatal diabetes mellitus due... DisGeNET Detail
We describe a 3-year-old girl with permanent neonatal diabetes mellitus with a mutation in the KCNJ1... 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
rs80356624 dbSNP
Genome
hg38
Position
chr11:17,387,490-17,387,490
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser