chr12:121432068:G>A Detail (hg19) (HNF1A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:121,432,068-121,432,068 |
| hg38 | chr12:120,994,265-120,994,265 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000545.6:c.815G>A | NP_000536.5:p.Arg272His |
| NM_001306179.1:c.815G>A | NP_001293108.1:p.Arg272His | |
| Ensemble | ENST00000400024.6:c.815G>A | ENST00000400024.6:p.Arg272His |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
2020/04/20 | ill-defined sites within the digestive system |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
1997-10-01 | no assertion criteria provided | type 1 diabetes mellitus 20 |
germline
|
Detail |
|
Pathogenic
|
2023-08-23 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2022-07-05 | reviewed by expert panel | Monogenic diabetes |
germline
|
Detail |
Pathogenic
Likely pathogenic
|
2019-03-09 | criteria provided, multiple submitters, no conflicts | Maturity onset diabetes mellitus in young |
germline
unknown
|
Detail |
|
Pathogenic
|
2022-08-25 | criteria provided, single submitter | maturity-onset diabetes of the young type 3 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.360 | DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder) | NA | CLINVAR | Detail | |
| 0.051 | Diabetes Mellitus, Non-Insulin-Dependent | A missense mutation of R272H (replacement of Arg by His in codon 272) in the DNA... | BeFree | 9313763 | Detail |
| 0.374 | Diabetes Mellitus, Non-Insulin-Dependent | A missense mutation of R272H (replacement of Arg by His in codon 272) in the DNA... | BeFree | 9313763 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000545.8(HNF1A):c.815G>A (p.Arg272His) AND Type 1 diabetes mellitus 20 | ClinVar | Detail |
| NM_000545.8(HNF1A):c.815G>A (p.Arg272His) AND not provided | ClinVar | Detail |
| NM_000545.8(HNF1A):c.815G>A (p.Arg272His) AND Monogenic diabetes | ClinVar | Detail |
| NM_000545.8(HNF1A):c.815G>A (p.Arg272His) AND Maturity onset diabetes mellitus in young | ClinVar | Detail |
| NM_000545.8(HNF1A):c.815G>A (p.Arg272His) AND Maturity-onset diabetes of the young type 3 | ClinVar | Detail |
| NA | DisGeNET | Detail |
| A missense mutation of R272H (replacement of Arg by His in codon 272) in the DNA binding domain of H... | DisGeNET | Detail |
| A missense mutation of R272H (replacement of Arg by His in codon 272) in the DNA binding domain of H... | 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
- rs137853238 dbSNP
- Genome
- hg19
- Position
- chr12:121,432,068-121,432,068
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser