chr12:121432125:C>G Detail (hg19) (HNF1A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:121,432,125-121,432,125 |
| hg38 | chr12:120,994,322-120,994,322 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000545.6:c.872C>G | NP_000536.5:p.Pro291Arg |
| NM_001306179.1:c.872C>G | NP_001293108.1:p.Pro291Arg | |
| Ensemble | ENST00000541395.5:c.872C>G | ENST00000541395.5:p.Pro291Arg |
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 |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Likely pathogenic
|
2011-08-18 | criteria provided, single submitter | maturity-onset diabetes of the young type 3 |
germline
|
Detail |
|
Uncertain significance
|
2022-08-05 | reviewed by expert panel | Monogenic diabetes |
germline
|
Detail |
|
Uncertain significance
|
2023-11-01 | criteria provided, single submitter | 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.872C>G (p.Pro291Arg) AND Maturity-onset diabetes of the young type 3 | ClinVar | Detail |
| NM_000545.8(HNF1A):c.872C>G (p.Pro291Arg) AND Monogenic diabetes | ClinVar | Detail |
| NM_000545.8(HNF1A):c.872C>G (p.Pro291Arg) 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
- rs193922606 dbSNP
- Genome
- hg19
- Position
- chr12:121,432,125-121,432,125
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 6416
- 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)
- 83820
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 3.579098067287044E-5
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