chr11:17387095:A>T Detail (hg38) (KCNJ11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:17,408,642-17,408,642 View the variant detail on this assembly version. |
| hg38 | chr11:17,387,095-17,387,095 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000525.3:c.997T>A | NP_000516.3:p.Phe333Ile |
| NM_001166290.1:c.736T>A | NP_001159762.1:p.Phe246Ile | |
| Ensemble | ENST00000339994.5:c.997T>A | ENST00000339994.5:p.Phe333Ile |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | 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 | |
| 0.569 | DIABETES MELLITUS, PERMANENT NEONATAL | We tested the functional effects of two Kir6.2 mutations (Y330C, F333I) that cau... | BeFree | 15962003 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000525.4(KCNJ11):c.997T>A (p.Phe333Ile) AND Permanent neonatal diabetes mellitus | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.997T>A (p.Phe333Ile) AND Neonatal hypoglycemia | ClinVar | Detail |
| NA | DisGeNET | Detail |
| We tested the functional effects of two Kir6.2 mutations (Y330C, F333I) that cause permanent neonata... | 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
- rs193929357 dbSNP
- Genome
- hg38
- Position
- chr11:17,387,095-17,387,095
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
Genome browser