chr12:120994323:>C Detail (hg38) (HNF1A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:121,432,126-121,432,126 |
| hg38 | chr12:120,994,323-120,994,323 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.445 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) | NA | CLINVAR | Detail | |
| 0.360 | DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder) | NA | CLINVAR | Detail | |
| 0.120 | Conventional (Clear Cell) Renal Cell Carcinoma | NA | CLINVAR | Detail | |
| 0.281 | Diabetes Mellitus, Insulin-Dependent | NA | CLINVAR | Detail | |
| 0.240 | Hepatic adenomas, familial | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- rs587776825 dbSNP
- Genome
- hg38
- Position
- chr12:120,994,323-120,994,323
- Variant Type
- snv
- Reference Allele
- -
- Alternative Allele
- C
Genome browser