chr12:121426827:TGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGG> Detail (hg19) (HNF1A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:121,426,827-121,426,872 |
| hg38 | chr12:120,989,024-120,989,069 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000545.6:c.518_526+37delTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGG | NP_000536.5:p.Val173_Gln176delinsGlu |
| NM_001306179.1:c.518_526+37delTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGG | NP_001293108.1:p.Val173_Gln176delinsGlu | |
| Ensemble | ENST00000544413.2:c.518_526+37delTGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGG | ENST00000544413.2:p.Val173_Gln176delinsGlu |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[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
|
2011-08-18 | criteria provided, single submitter | maturity-onset diabetes of the young type 3 |
germline
|
Detail |
|
Likely pathogenic
|
2022-04-20 | reviewed by expert panel | Monogenic diabetes |
germline
|
Detail |
| Likely risk allele | criteria provided, single submitter | Maturity onset diabetes mellitus in young |
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.518_526+37del AND Maturity-onset diabetes of the young type 3 | ClinVar | Detail |
| NM_000545.8(HNF1A):c.518_526+37del AND Monogenic diabetes | ClinVar | Detail |
| NM_000545.8(HNF1A):c.518_526+37del AND Maturity onset diabetes mellitus in young | 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
- rs386134267 dbSNP
- Genome
- hg19
- Position
- chr12:121,426,827-121,426,872
- Variant Type
- snv
- Reference Allele
- TGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGG
- Alternative Allele
- -
Genome browser