chr12:120978847:A>C Detail (hg38) (HNF1A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:121,416,650-121,416,650 View the variant detail on this assembly version. |
| hg38 | chr12:120,978,847-120,978,847 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000545.6:c.79A>C | NP_000536.5:p.Ile27Leu |
| NM_001306179.1:c.79A>C | NP_001293108.1:p.Ile27Leu | |
| Ensemble | ENST00000257555.11:c.79A>C | ENST00000257555.11:p.Ile27Leu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.495 |
| ToMMo:0.495 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.418 |
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 |
|---|---|---|---|---|---|
risk factor
|
2003-06-01 | no assertion criteria provided | Insulin resistance, susceptibility to |
germline
|
Detail |
|
risk factor
|
2003-06-01 | no assertion criteria provided | SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF |
germline
|
Detail |
Benign
|
2014-11-18 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2024-03-01 | criteria provided, conflicting interpretations | maturity-onset diabetes of the young type 3 |
germline
unknown
|
Detail |
|
Benign
|
criteria provided, single submitter | type 2 diabetes mellitus |
somatic
|
Detail | |
|
Benign
|
2015-08-19 | criteria provided, single submitter | Maturity onset diabetes mellitus in young |
germline
|
Detail |
|
Benign
|
2023-07-07 | criteria provided, single submitter | nonpapillary renal cell carcinoma |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.329 | Diabetes Mellitus, Non-Insulin-Dependent | In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR =... | BeFree | 18498634 | Detail |
| 0.393 | Diabetes Mellitus, Non-Insulin-Dependent | In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR =... | BeFree | 18498634 | Detail |
| 0.614 | Diabetes Mellitus, Non-Insulin-Dependent | In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR =... | BeFree | 18498634 | Detail |
| 0.415 | Diabetes Mellitus, Non-Insulin-Dependent | Clinical differences between patients with MODY-3, MODY-2 and type 2 diabetes me... | BeFree | 20172480 | Detail |
| 0.007 | Impaired glucose tolerance | The common variants p.I27L (rs1169288), p.A98V (rs1800574) and p.S487N (rs246419... | BeFree | 24933231 | Detail |
| 0.127 | Coronary heart disease | The HNF1A Ser486Asn and/or Ile27Leu variants were also associated with increased... | BeFree | 20031592 | Detail |
| 0.329 | Diabetes Mellitus, Non-Insulin-Dependent | Associations between the common HNF1A gene variant p.I27L (rs1169288) and risk o... | BeFree | 24933231 | Detail |
| 0.330 | Diabetes Mellitus, Non-Insulin-Dependent | In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR =... | BeFree | 18498634 | Detail |
| 0.001 | Coronary Arteriosclerosis | The HNF1A Ser486Asn and/or Ile27Leu variants were also associated with increased... | BeFree | 20031592 | Detail |
| 0.329 | Diabetes Mellitus, Non-Insulin-Dependent | Clinical differences between patients with MODY-3, MODY-2 and type 2 diabetes me... | BeFree | 20172480 | Detail |
| 0.340 | Diabetes Mellitus, Non-Insulin-Dependent | In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR =... | BeFree | 18498634 | Detail |
| 0.011 | gestational diabetes | The -30G-->A polymorphism of the beta-cell-specific promoter of GCK and the I... | BeFree | 16752173 | Detail |
| 0.145 | gestational diabetes | The -30G-->A polymorphism of the beta-cell-specific promoter of GCK and the I... | BeFree | 16752173 | Detail |
| 0.029 | Maturity onset diabetes mellitus in young | A new mutation in the hepatocyte nuclear factor-1-alpha gene (P224S) in a newly ... | BeFree | 15031772 | Detail |
| 0.120 | Insulin resistance, susceptibility to | NA | CLINVAR | Detail | |
| 0.322 | Diabetes Mellitus, Non-Insulin-Dependent | In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR =... | BeFree | 18498634 | Detail |
| <0.001 | gestational diabetes | The -30G-->A polymorphism of the beta-cell-specific promoter of GCK and the I... | BeFree | 16752173 | Detail |
| 0.009 | gestational diabetes | 13 SNPs (FTO rs8050136, CDKAL1 rs7754840 and rs7756992, CDKN2A/2B rs10811661, HH... | BeFree | 22591707 | Detail |
| 0.006 | obesity | In this study, we asked whether the co-occurrence of risk alleles in or near fiv... | BeFree | 24062323 | Detail |
| 0.003 | Impaired glucose tolerance | In this study, we asked whether the co-occurrence of risk alleles in or near fiv... | BeFree | 24062323 | Detail |
| 0.214 | Diabetes Mellitus, Non-Insulin-Dependent | In this study, we asked whether the co-occurrence of risk alleles in or near fiv... | BeFree | 24062323 | Detail |
| 0.011 | obesity | In this study, we asked whether the co-occurrence of risk alleles in or near fiv... | BeFree | 24062323 | Detail |
| 0.329 | Diabetes Mellitus, Non-Insulin-Dependent | In this study, we asked whether the co-occurrence of risk alleles in or near fiv... | BeFree | 24062323 | Detail |
| 0.007 | Impaired glucose tolerance | In this study, we asked whether the co-occurrence of risk alleles in or near fiv... | BeFree | 24062323 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) AND Insulin resistance, susceptibility to | ClinVar | Detail |
| NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) AND SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF | ClinVar | Detail |
| NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) AND not specified | ClinVar | Detail |
| NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) AND not provided | ClinVar | Detail |
| NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) AND Maturity-onset diabetes of the young type 3 | ClinVar | Detail |
| NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) AND Type 2 diabetes mellitus | ClinVar | Detail |
| NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) AND Maturity onset diabetes mellitus in young | ClinVar | Detail |
| NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu) AND Nonpapillary renal cell carcinoma | ClinVar | Detail |
| In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR = 0.73, P = 0.004), A... | DisGeNET | Detail |
| In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR = 0.73, P = 0.004), A... | DisGeNET | Detail |
| In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR = 0.73, P = 0.004), A... | DisGeNET | Detail |
| Clinical differences between patients with MODY-3, MODY-2 and type 2 diabetes mellitus with I27L pol... | DisGeNET | Detail |
| The common variants p.I27L (rs1169288), p.A98V (rs1800574) and p.S487N (rs2464196) of the hepatocyte... | DisGeNET | Detail |
| The HNF1A Ser486Asn and/or Ile27Leu variants were also associated with increased risk of subclinical... | DisGeNET | Detail |
| Associations between the common HNF1A gene variant p.I27L (rs1169288) and risk of type 2 diabetes me... | DisGeNET | Detail |
| In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR = 0.73, P = 0.004), A... | DisGeNET | Detail |
| The HNF1A Ser486Asn and/or Ile27Leu variants were also associated with increased risk of subclinical... | DisGeNET | Detail |
| Clinical differences between patients with MODY-3, MODY-2 and type 2 diabetes mellitus with I27L pol... | DisGeNET | Detail |
| In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR = 0.73, P = 0.004), A... | DisGeNET | Detail |
| The -30G-->A polymorphism of the beta-cell-specific promoter of GCK and the I27L polymorphism of ... | DisGeNET | Detail |
| The -30G-->A polymorphism of the beta-cell-specific promoter of GCK and the I27L polymorphism of ... | DisGeNET | Detail |
| A new mutation in the hepatocyte nuclear factor-1-alpha gene (P224S) in a newly discovered German fa... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In obese subjects, associations with T2D were detected with PPARG Pro12Ala (OR = 0.73, P = 0.004), A... | DisGeNET | Detail |
| The -30G-->A polymorphism of the beta-cell-specific promoter of GCK and the I27L polymorphism of ... | DisGeNET | Detail |
| 13 SNPs (FTO rs8050136, CDKAL1 rs7754840 and rs7756992, CDKN2A/2B rs10811661, HHEX rs1111875, IGF2BP... | DisGeNET | Detail |
| In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating i... | DisGeNET | Detail |
| In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating i... | DisGeNET | Detail |
| In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating i... | DisGeNET | Detail |
| In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating i... | DisGeNET | Detail |
| In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating i... | DisGeNET | Detail |
| In this study, we asked whether the co-occurrence of risk alleles in or near five genes modulating i... | 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
- rs1169288 dbSNP
- Genome
- hg38
- Position
- chr12:120,978,847-120,978,847
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1192
- Mean of sample read depth (HGVD)
- 37.52
- Standard deviation of sample read depth (HGVD)
- 18.74
- Number of reference allele (HGVD)
- 1203
- Number of alternative allele (HGVD)
- 1181
- Allele Frequency (HGVD)
- 0.49538590604026844
- Gene Symbol (HGVD)
- HNF1A
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs1169288
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4947
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8290
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16756
- East Asian Chromosome Counts (ExAC)
- 8502
- East Asian Allele Counts (ExAC)
- 3555
- East Asian Heterozygous Counts (ExAC)
- 2103
- East Asian Homozygous Counts (ExAC)
- 726
- East Asian Allele Frequency (ExAC)
- 0.41813690896259703
- Chromosome Counts in All Race (ExAC)
- 117634
- Allele Counts in All Race (ExAC)
- 41559
- Heterozygous Counts in All Race (ExAC)
- 26083
- Homozygous Counts in All Race (ExAC)
- 7738
- Allele Frequency in All Race (ExAC)
- 0.35329071526939493
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