chr11:17483325:G>T Detail (hg19) (ABCC8)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:17,483,325-17,483,325 |
| hg38 | chr11:17,461,778-17,461,778 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000352.4:c.627C>A | NP_000343.2:p.Asp209Glu |
| NM_001287174.1:c.627C>A | NP_001274103.1:p.Asp209Glu | |
| Ensemble | ENST00000643260.1:c.627C>A | ENST00000643260.1:p.Asp209Glu |
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.627C>A (p.Asp209Glu) 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
- rs80356640 dbSNP
- Genome
- hg19
- Position
- chr11:17,483,325-17,483,325
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser