chr12:121426700:C>T Detail (hg19) (HNF1A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:121,426,700-121,426,700 |
| hg38 | chr12:120,988,897-120,988,897 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000545.6:c.391C>T | NP_000536.5:p.Arg131Trp |
| NM_001306179.1:c.391C>T | NP_001293108.1:p.Arg131Trp | |
| Ensemble | ENST00000400024.6:c.391C>T | ENST00000400024.6:p.Arg131Trp |
Summary
MGeND
| Clinical significance |
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 |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
other |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2022-08-02 | criteria provided, single submitter | maturity-onset diabetes of the young type 3 |
germline
|
Detail |
|
Pathogenic
|
2023-12-25 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2021-08-18 | reviewed by expert panel | Monogenic diabetes |
germline
|
Detail |
|
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.391C>T (p.Arg131Trp) AND Maturity-onset diabetes of the young type 3 | ClinVar | Detail |
| NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp) AND not provided | ClinVar | Detail |
| NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp) AND Monogenic diabetes | ClinVar | Detail |
| NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp) 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
- rs137853244 dbSNP
- Genome
- hg19
- Position
- chr12:121,426,700-121,426,700
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser