chr11:17387491:G>A Detail (hg38) (KCNJ11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:17,409,038-17,409,038 View the variant detail on this assembly version. |
| hg38 | chr11:17,387,491-17,387,491 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000525.3:c.601C>T | NP_000516.3:p.Arg201Cys |
| NM_001166290.1:c.340C>T | NP_001159762.1:p.Arg114Cys | |
| Ensemble | ENST00000339994.5:c.601C>T | ENST00000339994.5:p.Arg201Cys |
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 |
|---|---|---|---|---|---|
not provided
|
no assertion provided | permanent neonatal diabetes mellitus |
unknown
|
Detail | |
Pathogenic
|
2013-02-08 | criteria provided, single submitter | diabetes mellitus |
germline
|
Detail |
|
Pathogenic
|
2005-01-01 | no assertion criteria provided | Diabetes mellitus, permanent neonatal 2 |
germline
|
Detail |
|
Pathogenic
|
2020-02-28 | criteria provided, single submitter | Diabetes mellitus, transient neonatal, 3 |
de novo
|
Detail |
|
Pathogenic
|
2023-12-19 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Pathogenic
|
criteria provided, single submitter | Neonatal diabetes mellitus |
germline
|
Detail | |
Uncertain significance
|
criteria provided, single submitter | Maturity onset diabetes mellitus in young |
somatic
|
Detail | |
Benign
|
criteria provided, single submitter | Transitory neonatal diabetes mellitus |
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.601C>T (p.Arg201Cys) AND Permanent neonatal diabetes mellitus | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) AND Diabetes mellitus | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) AND Diabetes mellitus, permanent neonatal 2 | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) AND Diabetes mellitus, transient neonatal, 3 | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) AND not provided | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) AND Neonatal diabetes mellitus | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) AND Maturity onset diabetes mellitus in young | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) AND Transitory neonatal diabetes mellitus | 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
- rs80356625 dbSNP
- Genome
- hg38
- Position
- chr11:17,387,491-17,387,491
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser