chr3:12381349:C>A Detail (hg38) (PPARG)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:12,422,848-12,422,848 View the variant detail on this assembly version. |
hg38 | chr3:12,381,349-12,381,349 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_015869.4:c.338C>A | NP_056953.2:p.Pro113Gln |
NM_138712.3:c.248C>A | NP_619726.2:p.Pro83Gln | |
NM_005037.5:c.248C>A | NP_005028.4:p.Pro83Gln |
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
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.163 | diabetes mellitus | Two naturally occurring mutations in the PPAR gamma gene, Pro115Gln and Pro12Ala... | BeFree | 10757637 | Detail |
0.127 | Obesity, Morbid | NA | CLINVAR | Detail | |
0.439 | obesity | The Pro115Gln and Pro12Ala PPAR gamma gene mutations in obesity and type 2 diabe... | BeFree | 10757637 | Detail |
0.008 | Diabetes | Two naturally occurring mutations in the PPAR gamma gene, Pro115Gln and Pro12Ala... | BeFree | 10757637 | Detail |
0.439 | obesity | Obesity associated with a mutation in a genetic regulator of adipocyte different... | UNIPROT | 9753710 | Detail |
0.017 | Diabetes | The association of the Pro12Ala and Pro115Gln PPARgamma2 gene variants with type... | BeFree | 11079814 | Detail |
0.393 | Diabetes Mellitus, Non-Insulin-Dependent | The Pro115Gln and Pro12Ala PPAR gamma gene mutations in obesity and type 2 diabe... | BeFree | 10757637 | Detail |
0.017 | Diabetes | Two naturally occurring mutations in the PPAR gamma gene, Pro115Gln and Pro12Ala... | BeFree | 10757637 | Detail |
0.163 | diabetes mellitus | The association of the Pro12Ala and Pro115Gln PPARgamma2 gene variants with type... | BeFree | 11079814 | Detail |
0.016 | diabetes mellitus | Two naturally occurring mutations in the PPAR gamma gene, Pro115Gln and Pro12Ala... | BeFree | 10757637 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_138711.6(PPARG):c.248C>A (p.Pro83Gln) AND Morbid obesity | ClinVar | Detail |
NM_138711.6(PPARG):c.248C>A (p.Pro83Gln) AND not provided | ClinVar | Detail |
Two naturally occurring mutations in the PPAR gamma gene, Pro115Gln and Pro12Ala, have recently been... | DisGeNET | Detail |
NA | DisGeNET | Detail |
The Pro115Gln and Pro12Ala PPAR gamma gene mutations in obesity and type 2 diabetes. | DisGeNET | Detail |
Two naturally occurring mutations in the PPAR gamma gene, Pro115Gln and Pro12Ala, have recently been... | DisGeNET | Detail |
Obesity associated with a mutation in a genetic regulator of adipocyte differentiation. | DisGeNET | Detail |
The association of the Pro12Ala and Pro115Gln PPARgamma2 gene variants with type 2 diabetes mellitus... | DisGeNET | Detail |
The Pro115Gln and Pro12Ala PPAR gamma gene mutations in obesity and type 2 diabetes. | DisGeNET | Detail |
Two naturally occurring mutations in the PPAR gamma gene, Pro115Gln and Pro12Ala, have recently been... | DisGeNET | Detail |
The association of the Pro12Ala and Pro115Gln PPARgamma2 gene variants with type 2 diabetes mellitus... | DisGeNET | Detail |
Two naturally occurring mutations in the PPAR gamma gene, Pro115Gln and Pro12Ala, have recently been... | 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
- rs1800571 dbSNP
- Genome
- hg38
- Position
- chr3:12,381,349-12,381,349
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
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