chr12:120993601:G>A Detail (hg38) (HNF1A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:121,431,404-121,431,404 View the variant detail on this assembly version. |
| hg38 | chr12:120,993,601-120,993,601 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000545.6:c.608G>A | NP_000536.5:p.Arg203His |
| NM_001306179.1:c.608G>A | NP_001293108.1:p.Arg203His | |
| Ensemble | ENST00000257555.11:c.608G>A | ENST00000257555.11:p.Arg203His |
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 |
|---|---|---|---|---|---|
Likely pathogenic
|
2017-08-23 | no assertion criteria provided | Diabetes mellitus type 1 |
germline
|
Detail |
Pathogenic
|
2023-11-10 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2022-04-10 | reviewed by expert panel | Monogenic diabetes |
germline
|
Detail |
|
Pathogenic
|
2022-08-02 | criteria provided, single submitter | maturity-onset diabetes of the young type 3 |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2021-04-07 | criteria provided, multiple submitters, no conflicts | Maturity onset diabetes mellitus in young |
germline
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.281 | Diabetes Mellitus, Insulin-Dependent | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000545.8(HNF1A):c.608G>A (p.Arg203His) AND Diabetes mellitus type 1 | ClinVar | Detail |
| NM_000545.8(HNF1A):c.608G>A (p.Arg203His) AND not provided | ClinVar | Detail |
| NM_000545.8(HNF1A):c.608G>A (p.Arg203His) AND Monogenic diabetes | ClinVar | Detail |
| NM_000545.8(HNF1A):c.608G>A (p.Arg203His) AND Maturity-onset diabetes of the young type 3 | ClinVar | Detail |
| NM_000545.8(HNF1A):c.608G>A (p.Arg203His) AND Maturity onset diabetes mellitus in young | 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
- rs587780357 dbSNP
- Genome
- hg38
- Position
- chr12:120,993,601-120,993,601
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser