chr11:17408675:C>T Detail (hg19) (KCNJ11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:17,408,675-17,408,675 |
| hg38 | chr11:17,387,128-17,387,128 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001166290.1:c.703G>A | NP_001159762.1:p.Glu235Lys |
| NM_000525.3:c.964G>A | NP_000516.3:p.Glu322Lys | |
| Ensemble | ENST00000528731.1:c.703G>A | ENST00000528731.1:p.Glu235Lys |
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 |
Uncertain significance
|
criteria provided, single submitter | Transitory neonatal diabetes mellitus |
somatic
|
Detail | |
|
Pathogenic
|
2023-07-08 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.569 | DIABETES MELLITUS, PERMANENT NEONATAL | NA | CLINVAR | Detail | |
| 0.149 | Neonatal diabetes mellitus | Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing n... | BeFree | 17919178 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys) AND Permanent neonatal diabetes mellitus | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys) AND Diabetes mellitus | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys) AND Transitory neonatal diabetes mellitus | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys) AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
| Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes. | 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
- rs193929355 dbSNP
- Genome
- hg19
- Position
- chr11:17,408,675-17,408,675
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser