chr12:120993663:C>T Detail (hg38) (HNF1A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:121,431,466-121,431,466 View the variant detail on this assembly version. |
| hg38 | chr12:120,993,663-120,993,663 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000545.6:c.670C>T | NP_000536.5:p.Pro224Ser |
| NM_001306179.1:c.670C>T | NP_001293108.1:p.Pro224Ser | |
| Ensemble | ENST00000257555.11:c.670C>T | ENST00000257555.11:p.Pro224Ser |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2011-08-18 | criteria provided, single submitter | maturity-onset diabetes of the young type 3 |
germline
|
Detail |
|
Likely pathogenic
|
2021-12-30 | reviewed by expert panel | Monogenic diabetes |
germline
|
Detail |
| Likely risk allele | criteria provided, single submitter | Maturity onset diabetes mellitus in young |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.029 | Maturity onset diabetes mellitus in young | A new mutation in the hepatocyte nuclear factor-1-alpha gene (P224S) in a newly ... | BeFree | 15031772 | Detail |
| 0.445 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000545.8(HNF1A):c.670C>T (p.Pro224Ser) AND Maturity-onset diabetes of the young type 3 | ClinVar | Detail |
| NM_000545.8(HNF1A):c.670C>T (p.Pro224Ser) AND Monogenic diabetes | ClinVar | Detail |
| NM_000545.8(HNF1A):c.670C>T (p.Pro224Ser) AND Maturity onset diabetes mellitus in young | ClinVar | Detail |
| A new mutation in the hepatocyte nuclear factor-1-alpha gene (P224S) in a newly discovered German fa... | 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
- rs193922600 dbSNP
- Genome
- hg38
- Position
- chr12:120,993,663-120,993,663
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser