chr11:17470109:A>G Detail (hg38) (ABCC8)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:17,491,656-17,491,656 View the variant detail on this assembly version. |
| hg38 | chr11:17,470,109-17,470,109 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001287174.1:c.404T>C | NP_001274103.1:p.Leu135Pro |
| NM_000352.4:c.404T>C | NP_000343.2:p.Leu135Pro | |
| Ensemble | ENST00000302539.9:c.404T>C | ENST00000302539.9:p.Leu135Pro |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | 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 |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.484 | DIABETES MELLITUS, PERMANENT NEONATAL | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000352.6(ABCC8):c.404T>C (p.Leu135Pro) AND Permanent 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
- rs193929364 dbSNP
- Genome
- hg38
- Position
- chr11:17,470,109-17,470,109
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser