chr12:121434365:C> Detail (hg19) (HNF1A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:121,434,365-121,434,365 |
| hg38 | chr12:120,996,562-120,996,562 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000545.6:c.1129delC | NP_000536.5:p.Leu377SerfsTer7 |
| NM_001306179.1:c.1129delC | NP_001293108.1:p.Leu377SerfsTer7 | |
| Ensemble | ENST00000257555.11:c.1129delC | ENST00000257555.11:p.Leu377SerfsTer7 |
Summary
MGeND
| Clinical significance |
Likely pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Likely pathogenic
|
Adenocarcinoma of stomach (disorder) |
unknown
|
MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University |
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 |
Pathogenic
|
2021-12-31 | reviewed by expert panel | Monogenic diabetes |
germline
|
Detail |
|
Pathogenic
|
2020-12-10 | criteria provided, single submitter | not provided |
germline
|
Detail |
|
Likely pathogenic
|
criteria provided, single submitter | Maturity onset diabetes mellitus in young |
unknown
|
Detail |
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 |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000545.8(HNF1A):c.1129del (p.Leu377fs) AND Maturity-onset diabetes of the young type 3 | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1129del (p.Leu377fs) AND Monogenic diabetes | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1129del (p.Leu377fs) AND not provided | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1129del (p.Leu377fs) 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
- rs193922576 dbSNP
- Genome
- hg19
- Position
- chr12:121,434,365-121,434,365
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- -
Genome browser