chr12:121437382:A>G Detail (hg19) (HNF1A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:121,437,382-121,437,382 |
| hg38 | chr12:120,999,579-120,999,579 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000545.6:c.1720A>G | NP_000536.5:p.Ser574Gly |
| NM_001306179.1:c.1720A>G | NP_001293108.1:p.Ser574Gly | |
| Ensemble | ENST00000544413.2:c.1741A>G | ENST00000544413.2:p.Ser581Gly |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:1.000 |
| ToMMo:1.000 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:1.000 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2021-08-10 | criteria provided, single submitter | maturity-onset diabetes of the young type 3 |
germline
|
Detail |
|
Benign
|
2018-09-10 | criteria provided, single submitter | not specified |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
Likely pathogenic
|
no assertion criteria provided |
unknown
|
Detail | ||
|
Likely pathogenic
|
no assertion criteria provided |
unknown
|
Detail | ||
|
Likely pathogenic
|
no assertion criteria provided | breast carcinoma |
unknown
|
Detail | |
|
Benign
|
2022-04-18 | reviewed by expert panel | Monogenic diabetes |
germline
|
Detail |
|
Benign
|
criteria provided, single submitter | Maturity onset diabetes mellitus in young |
unknown
|
Detail | |
|
Benign
|
2021-09-13 | criteria provided, single submitter | maturity-onset diabetes of the young type 3,type 1 diabetes mellitus 20,Hepatic adenomas, familial,type 2 diabetes mellitus,nonpapillary renal cell carcinoma,Diabetes mellitus type 1 |
unknown
|
Detail |
|
Benign
|
2021-09-13 | criteria provided, single submitter | maturity-onset diabetes of the young type 3,type 1 diabetes mellitus 20,Hepatic adenomas, familial,type 2 diabetes mellitus,nonpapillary renal cell carcinoma,Diabetes mellitus type 1 |
unknown
|
Detail |
|
Benign
|
2021-09-13 | criteria provided, single submitter | maturity-onset diabetes of the young type 3,type 1 diabetes mellitus 20,Hepatic adenomas, familial,type 2 diabetes mellitus,nonpapillary renal cell carcinoma,Diabetes mellitus type 1 |
unknown
|
Detail |
|
Benign
|
2021-09-13 | criteria provided, single submitter | maturity-onset diabetes of the young type 3,type 1 diabetes mellitus 20,Hepatic adenomas, familial,type 2 diabetes mellitus,nonpapillary renal cell carcinoma,Diabetes mellitus type 1 |
unknown
|
Detail |
|
Benign
|
2021-09-13 | criteria provided, single submitter | maturity-onset diabetes of the young type 3,type 1 diabetes mellitus 20,Hepatic adenomas, familial,type 2 diabetes mellitus,nonpapillary renal cell carcinoma,Diabetes mellitus type 1 |
unknown
|
Detail |
|
Benign
|
2021-09-13 | criteria provided, single submitter | maturity-onset diabetes of the young type 3,type 1 diabetes mellitus 20,Hepatic adenomas, familial,type 2 diabetes mellitus,nonpapillary renal cell carcinoma,Diabetes mellitus type 1 |
unknown
|
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.1720A>G (p.Ser574Gly) AND Maturity-onset diabetes of the young type 3 | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) AND not specified | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) AND not provided | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) AND Reduced delayed hypersensitivity | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) AND Symphalangism affecting the proximal phalanx of the 4... | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) AND Breast carcinoma | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) AND Monogenic diabetes | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) AND Maturity onset diabetes mellitus in young | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) AND multiple conditions | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) AND multiple conditions | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) AND multiple conditions | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) AND multiple conditions | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) AND multiple conditions | ClinVar | Detail |
| NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) AND multiple conditions | 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
- rs1169305 dbSNP
- Genome
- hg19
- Position
- chr12:121,437,382-121,437,382
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1206
- Mean of sample read depth (HGVD)
- 94.58
- Standard deviation of sample read depth (HGVD)
- 48.79
- Number of reference allele (HGVD)
- 1
- Number of alternative allele (HGVD)
- 2401
- Allele Frequency (HGVD)
- 0.9995836802664446
- 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))
- rs1169305
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.9998
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16757
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8542
- East Asian Allele Counts (ExAC)
- 8540
- East Asian Heterozygous Counts (ExAC)
- 2
- East Asian Homozygous Counts (ExAC)
- 4269
- East Asian Allele Frequency (ExAC)
- 0.9997658627955982
- Chromosome Counts in All Race (ExAC)
- 116584
- Allele Counts in All Race (ExAC)
- 116100
- Heterozygous Counts in All Race (ExAC)
- 460
- Homozygous Counts in All Race (ExAC)
- 57820
- Allele Frequency in All Race (ExAC)
- 0.9958484869278803
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