chr11:17409460:A>T Detail (hg19) (KCNJ11)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:17,409,460-17,409,460 |
| hg38 | chr11:17,387,913-17,387,913 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000525.3:c.179T>A | NP_000516.3:p.Phe60Tyr |
| NM_001166290.1:c.-16-67T>A | ||
| Ensemble | ENST00000339994.5:c.179T>A | ENST00000339994.5:p.Phe60Tyr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.010 | epilepsy | We report two novel mutations on the same haplotype (cis), F60Y and V64L, in the... | BeFree | 20022885 | Detail |
| 0.120 | DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000525.4(KCNJ11):c.179T>A (p.Phe60Tyr) AND Diabetes mellitus, permanent neonatal 2 | ClinVar | Detail |
| NM_000525.4(KCNJ11):c.179T>A (p.Phe60Tyr) AND Hyperinsulinemia | ClinVar | Detail |
| We report two novel mutations on the same haplotype (cis), F60Y and V64L, in the slide helix of Kir6... | 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
- rs387906783 dbSNP
- Genome
- hg19
- Position
- chr11:17,409,460-17,409,460
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
Genome browser