chr12:120999604:A>G Detail (hg38) (HNF1A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:121,437,407-121,437,407 View the variant detail on this assembly version. |
| hg38 | chr12:120,999,604-120,999,604 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000545.6:c.1745A>G | NP_000536.5:p.His582Arg |
| NM_001306179.1:c.1745A>G | NP_001293108.1:p.His582Arg | |
| Ensemble | ENST00000257555.11:c.1745A>G | ENST00000257555.11:p.His582Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Uncertain significance
|
2020-01-22 | criteria provided, single submitter | Monogenic diabetes |
germline
|
Detail |
Likely benign
|
2023-08-22 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Uncertain significance
|
2023-11-14 | criteria provided, multiple submitters, no conflicts | not provided |
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.1745A>G (p.His582Arg) AND Monogenic diabetes | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1745A>G (p.His582Arg) AND not specified | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1745A>G (p.His582Arg) AND not provided | 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
- rs193922589 dbSNP
- Genome
- hg38
- Position
- chr12:120,999,604-120,999,604
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8304
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 111296
- Allele Counts in All Race (ExAC)
- 6
- Heterozygous Counts in All Race (ExAC)
- 6
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 5.39102932719954E-5
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