chr11:17387206:T>G Detail (hg38) (KCNJ11)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:17,408,753-17,408,753 View the variant detail on this assembly version. |
hg38 | chr11:17,387,206-17,387,206 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000525.3:c.886A>C | NP_000516.3:p.Ile296Leu |
NM_001166290.1:c.625A>C | NP_001159762.1:p.Ile209Leu | |
Ensemble | ENST00000339994.5:c.886A>C | ENST00000339994.5:p.Ile296Leu |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
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 |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000525.4(KCNJ11):c.886A>C (p.Ile296Leu) AND Permanent neonatal diabetes mellitus | ClinVar | Detail |
NM_000525.4(KCNJ11):c.886A>C (p.Ile296Leu) AND sulfonylureas response | 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 |
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
- rs193929353 dbSNP
- Genome
- hg38
- Position
- chr11:17,387,206-17,387,206
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
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