chr12:121001155:C>T Detail (hg38) (HNF1A, C12orf43)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:121,438,958-121,438,958 View the variant detail on this assembly version. |
| hg38 | chr12:121,001,155-121,001,155 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001286192.1:c.*2998G>A | |
| NM_001286198.1:c.*2998G>A | ||
| NM_022895.2:c.*2998G>A |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000545.6:c.1859C>T | NP_000536.5:p.Thr620Ile |
| NM_001306179.1:c.1859C>T | NP_001293108.1:p.Thr620Ile | |
| Ensemble | ENST00000257555.11:c.1859C>T | ENST00000257555.11:p.Thr620Ile |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Links
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | ||
| HGNC | 25719 | HGNC | |
| Ensembl | ENSG00000157895 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
1999-09-01 | no assertion criteria provided | maturity-onset diabetes of the young type 3 |
germline
|
Detail |
|
Uncertain significance
|
2022-04-24 | reviewed by expert panel | Monogenic diabetes |
germline
|
Detail |
|
Uncertain significance
|
2022-09-07 | criteria provided, single submitter | not specified |
germline
|
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.1859C>T (p.Thr620Ile) AND Maturity-onset diabetes of the young type 3 | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1859C>T (p.Thr620Ile) AND Monogenic diabetes | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1859C>T (p.Thr620Ile) AND not specified | 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
- rs137853241 dbSNP
- Genome
- hg38
- Position
- chr12:121,001,155-121,001,155
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser