chr11:17408753:T>C Detail (hg19) (KCNJ11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:17,408,753-17,408,753 |
| hg38 | chr11:17,387,206-17,387,206 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000525.3:c.886A>G | NP_000516.3:p.Ile296Val |
| NM_001166290.1:c.625A>G | NP_001159762.1:p.Ile209Val | |
| Ensemble | ENST00000339994.5:c.886A>G | ENST00000339994.5:p.Ile296Val |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
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 |
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>G (p.Ile296Val) AND Permanent 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 |
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
- hg19
- Position
- chr11:17,408,753-17,408,753
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser