chr11:17387103:T>C Detail (hg38) (KCNJ11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:17,408,650-17,408,650 View the variant detail on this assembly version. |
| hg38 | chr11:17,387,103-17,387,103 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000525.3:c.989A>G | NP_000516.3:p.Tyr330Cys |
| NM_001166290.1:c.728A>G | NP_001159762.1:p.Tyr243Cys | |
| Ensemble | ENST00000339994.5:c.989A>G | ENST00000339994.5:p.Tyr330Cys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| 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 |
germline
|
Detail | |
|
Likely pathogenic
|
criteria provided, single submitter | type 2 diabetes mellitus |
somatic
|
Detail | |
|
Pathogenic
|
2023-06-16 | 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 | |
| 0.120 | Neonatal insulin-dependent diabetes mellitus | NA | CLINVAR | Detail | |
| 0.569 | DIABETES MELLITUS, PERMANENT NEONATAL | We tested the functional effects of two Kir6.2 mutations (Y330C, F333I) that cau... | BeFree | 15962003 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys) AND Permanent neonatal diabetes mellitus | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys) AND Neonatal insulin-dependent diabetes mellitus | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys) AND Type 2 diabetes mellitus | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys) AND not provided | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We tested the functional effects of two Kir6.2 mutations (Y330C, F333I) that cause permanent neonata... | 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
- rs193929356 dbSNP
- Genome
- hg38
- Position
- chr11:17,387,103-17,387,103
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
Genome browser