chr12:120994277:C>A Detail (hg38) (HNF1A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:121,432,080-121,432,080 View the variant detail on this assembly version. |
| hg38 | chr12:120,994,277-120,994,277 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000545.6:c.827C>A | NP_000536.5:p.Ala276Asp |
| NM_001306179.1:c.827C>A | NP_001293108.1:p.Ala276Asp | |
| Ensemble | ENST00000257555.11:c.827C>A | ENST00000257555.11:p.Ala276Asp |
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 |
Pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2003-02-01 | no assertion criteria provided | maturity-onset diabetes of the young type 3 |
germline
|
Detail |
Likely pathogenic
|
2021-06-14 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2022-04-18 | reviewed by expert panel | Monogenic diabetes |
germline
|
Detail |
|
Pathogenic
|
2020-01-31 | criteria provided, single submitter | Hyperinsulinism due to HNF1A deficiency |
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.827C>A (p.Ala276Asp) AND Maturity-onset diabetes of the young type 3 | ClinVar | Detail |
| NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp) AND not provided | ClinVar | Detail |
| NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp) AND Monogenic diabetes | ClinVar | Detail |
| NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp) AND Hyperinsulinism due to HNF1A deficiency | 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
- rs137853245 dbSNP
- Genome
- hg38
- Position
- chr12:120,994,277-120,994,277
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 7850
- 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)
- 108922
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 9.18088173188153E-6
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