chr12:120994240:G>T Detail (hg38) (HNF1A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr12:121,432,043-121,432,043 View the variant detail on this assembly version. |
hg38 | chr12:120,994,240-120,994,240 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000545.6:c.790G>T | NP_000536.5:p.Val264Phe |
NM_001306179.1:c.790G>T | NP_001293108.1:p.Val264Phe | |
Ensemble | ENST00000257555.11:c.790G>T | ENST00000257555.11:p.Val264Phe |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2011-08-18 | criteria provided, single submitter | maturity-onset diabetes of the young type 3 |
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Detail |
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2022-04-14 | reviewed by expert panel | Monogenic diabetes |
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Detail |
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criteria provided, single submitter | Maturity onset diabetes mellitus in young |
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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.790G>T (p.Val264Phe) AND Maturity-onset diabetes of the young type 3 | ClinVar | Detail |
NM_000545.8(HNF1A):c.790G>T (p.Val264Phe) AND Monogenic diabetes | ClinVar | Detail |
NM_000545.8(HNF1A):c.790G>T (p.Val264Phe) 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 |
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Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs193922604 dbSNP
- Genome
- hg38
- Position
- chr12:120,994,240-120,994,240
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
Genome browser