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 |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2006-07-01 | no assertion criteria provided | Diabetes mellitus, permanent neonatal 2 |
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Detail |
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no assertion provided | permanent neonatal diabetes mellitus |
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Detail | |
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2013-02-08 | criteria provided, single submitter |
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Detail | |
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2023-09-24 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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criteria provided, single submitter | Neonatal diabetes mellitus |
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Detail | |
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criteria provided, single submitter | Transitory neonatal diabetes mellitus |
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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
Descrption | Source | Links |
---|---|---|
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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