chr11:17409482:C>T Detail (hg19) (KCNJ11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:17,409,482-17,409,482 |
| hg38 | chr11:17,387,935-17,387,935 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001166290.1:c.-16-89G>A | |
| NM_000525.3:c.157G>A | NP_000516.3:p.Gly53Ser | |
| Ensemble | ENST00000528731.1:c.-16-89G>A |
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
|
2005-04-01 | no assertion criteria provided | Diabetes mellitus, transient neonatal, 3 |
germline
unknown
|
Detail |
Uncertain significance
|
criteria provided, single submitter | Maturity onset diabetes mellitus in young |
somatic
|
Detail | |
|
Uncertain significance
|
criteria provided, single submitter | type 2 diabetes mellitus |
somatic
|
Detail | |
Likely pathogenic
|
criteria provided, single submitter | Transitory neonatal diabetes mellitus |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000525.4(KCNJ11):c.157G>A (p.Gly53Ser) AND Diabetes mellitus, transient neonatal, 3 | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.157G>A (p.Gly53Ser) AND Maturity onset diabetes mellitus in young | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.157G>A (p.Gly53Ser) AND Type 2 diabetes mellitus | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.157G>A (p.Gly53Ser) AND Transitory neonatal diabetes mellitus | ClinVar | 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
- rs80356613 dbSNP
- Genome
- hg19
- Position
- chr11:17,409,482-17,409,482
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser