chr11:17387968:A>G Detail (hg38) (KCNJ11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:17,409,515-17,409,515 View the variant detail on this assembly version. |
| hg38 | chr11:17,387,968-17,387,968 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000525.3:c.124T>C | NP_000516.3:p.Cys42Arg |
| NM_001166290.1:c.-16-122T>C | ||
| Ensemble | ENST00000339994.5:c.124T>C | ENST00000339994.5:p.Cys42Arg |
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 |
|---|---|---|---|---|---|
Pathogenic
|
2005-06-01 | no assertion criteria provided | Diabetes mellitus, transient neonatal, 3 |
germline
|
Detail |
not provided
|
no assertion provided | permanent neonatal diabetes mellitus |
unknown
|
Detail | |
|
Pathogenic
|
2005-06-01 | no assertion criteria provided | maturity-onset diabetes of the young type 13 |
germline
|
Detail |
|
Pathogenic
|
2021-03-12 | criteria provided, single submitter | not provided |
germline
|
Detail |
Uncertain significance
|
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 | |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal d... | BeFree | 15784703 | Detail |
| 0.149 | Neonatal diabetes mellitus | The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal d... | BeFree | 15784703 | Detail |
| 0.360 | DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000525.4(KCNJ11):c.124T>C (p.Cys42Arg) AND Diabetes mellitus, transient neonatal, 3 | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.124T>C (p.Cys42Arg) AND Permanent neonatal diabetes mellitus | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.124T>C (p.Cys42Arg) AND Maturity-onset diabetes of the young type 13 | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.124T>C (p.Cys42Arg) AND not provided | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.124T>C (p.Cys42Arg) AND Maturity onset diabetes mellitus in young | ClinVar | Detail |
| NA | DisGeNET | Detail |
| The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood d... | DisGeNET | Detail |
| The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood d... | 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
- rs80356610 dbSNP
- Genome
- hg38
- Position
- chr11:17,387,968-17,387,968
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser