chr11:17409140:T>G Detail (hg19) (KCNJ11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:17,409,140-17,409,140 |
| hg38 | chr11:17,387,593-17,387,593 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001166290.1:c.238A>C | NP_001159762.1:p.Ile80Leu |
| NM_000525.3:c.499A>C | NP_000516.3:p.Ile167Leu | |
| Ensemble | ENST00000528731.1:c.238A>C | ENST00000528731.1:p.Ile80Leu |
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 |
|---|---|---|---|---|---|
Pathogenic
|
2007-09-25 | no assertion criteria provided | Diabetes mellitus, permanent neonatal 2 |
germline
|
Detail |
not provided
|
no assertion provided | permanent neonatal diabetes mellitus |
unknown
|
Detail | |
Benign
|
criteria provided, single submitter | Maturity onset diabetes mellitus in young |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.569 | DIABETES MELLITUS, PERMANENT NEONATAL | NA | CLINVAR | Detail | |
| 0.120 | DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000525.4(KCNJ11):c.499A>C (p.Ile167Leu) AND Diabetes mellitus, permanent neonatal 2 | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.499A>C (p.Ile167Leu) AND Permanent neonatal diabetes mellitus | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.499A>C (p.Ile167Leu) AND Maturity onset diabetes mellitus in young | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- rs80356620 dbSNP
- Genome
- hg19
- Position
- chr11:17,409,140-17,409,140
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
Genome browser