chr12:121437410:G>A Detail (hg19) (HNF1A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:121,437,410-121,437,410 |
| hg38 | chr12:120,999,607-120,999,607 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000545.6:c.1748G>A | NP_000536.5:p.Arg583Gln |
| NM_001306179.1:c.1748G>A | NP_001293108.1:p.Arg583Gln | |
| Ensemble | ENST00000541395.5:c.1841G>A | ENST00000541395.5:p.Arg614Gln |
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 |
|---|---|---|---|---|---|
| no classifications from unflagged records | 2023-11-02 | no classifications from unflagged records | maturity-onset diabetes of the young type 3 |
germline
|
Detail |
Likely benign
|
2020-11-18 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2024-01-06 | criteria provided, conflicting interpretations | not provided |
germline
|
Detail |
|
Likely benign
|
2016-10-27 | criteria provided, single submitter | Maturity onset diabetes mellitus in young |
germline
|
Detail |
Uncertain significance
|
2021-12-29 | criteria provided, single submitter | type 1 diabetes mellitus 20,type 2 diabetes mellitus,Diabetes mellitus type 1,maturity-onset diabetes of the young type 3 |
germline
|
Detail |
|
Uncertain significance
|
2021-12-29 | criteria provided, single submitter | type 1 diabetes mellitus 20,type 2 diabetes mellitus,Diabetes mellitus type 1,maturity-onset diabetes of the young type 3 |
germline
|
Detail |
|
Uncertain significance
|
2021-12-29 | criteria provided, single submitter | type 1 diabetes mellitus 20,type 2 diabetes mellitus,Diabetes mellitus type 1,maturity-onset diabetes of the young type 3 |
germline
|
Detail |
|
Uncertain significance
|
2021-12-29 | criteria provided, single submitter | type 1 diabetes mellitus 20,type 2 diabetes mellitus,Diabetes mellitus type 1,maturity-onset diabetes of the young type 3 |
germline
|
Detail |
|
Uncertain significance
|
2024-02-08 | criteria provided, single submitter | HNF1A-related disorder |
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.1748G>A (p.Arg583Gln) AND Maturity-onset diabetes of the young type 3 | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) AND not specified | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) AND not provided | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) AND Maturity onset diabetes mellitus in young | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) AND multiple conditions | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) AND multiple conditions | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) AND multiple conditions | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) AND multiple conditions | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) AND HNF1A-related disorder | 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
- rs137853242 dbSNP
- Genome
- hg19
- Position
- chr12:121,437,410-121,437,410
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8292
- 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)
- 111100
- Allele Counts in All Race (ExAC)
- 56
- Heterozygous Counts in All Race (ExAC)
- 56
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 5.040504050405041E-4
Genome browser