chr12:120994277:C>G 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>G | NP_000536.5:p.Ala276Gly |
| NM_001306179.1:c.827C>G | NP_001293108.1:p.Ala276Gly | |
| Ensemble | ENST00000257555.11:c.827C>G | ENST00000257555.11:p.Ala276Gly |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:<0.001 |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Likely pathogenic
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Likely pathogenic
|
2023-01-06 | criteria provided, multiple submitters, no conflicts | maturity-onset diabetes of the young type 3 |
germline
unknown
|
Detail |
|
Likely pathogenic
|
2023-04-05 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Likely pathogenic
|
2022-05-03 | reviewed by expert panel | Monogenic diabetes |
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>G (p.Ala276Gly) AND Maturity-onset diabetes of the young type 3 | ClinVar | Detail |
| NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) AND not provided | ClinVar | Detail |
| NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) AND Monogenic diabetes | 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
- G
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1209
- Mean of sample read depth (HGVD)
- 181.23
- Standard deviation of sample read depth (HGVD)
- 84.92
- Number of reference allele (HGVD)
- 2417
- Number of alternative allele (HGVD)
- 1
- Allele Frequency (HGVD)
- 4.1356492969396195E-4
- Gene Symbol (HGVD)
- HNF1A
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