chr4:23815662:C>T Detail (hg19) (PPARGC1A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:23,815,662-23,815,662 |
hg38 | chr4:23,814,039-23,814,039 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_013261.3:c.1444G>A | NP_037393.1:p.Gly482Ser |
Ensemble | ENST00000264867.7:c.1444G>A | ENST00000264867.7:p.Gly482Ser |
ENST00000613098.4:c.1063G>A | ENST00000613098.4:p.Gly355Ser |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.458 |
ToMMo:0.473 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.433 |
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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2019-10-17 | criteria provided, single submitter | PPARGC1A-related disorder |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.330 | Diabetes Mellitus, Non-Insulin-Dependent | Under an additive genetic model, the C allele of ADRB3-rs4994, the C allele of E... | BeFree | 22391941 | Detail |
0.287 | Diabetes Mellitus, Non-Insulin-Dependent | Under an additive genetic model, the C allele of ADRB3-rs4994, the C allele of E... | BeFree | 22391941 | Detail |
0.079 | Diabetes Mellitus, Non-Insulin-Dependent | Under an additive genetic model, the C allele of ADRB3-rs4994, the C allele of E... | BeFree | 22391941 | Detail |
0.003 | gestational diabetes | The other polymorphisms studied were not significantly associated with gestation... | BeFree | 17342473 | Detail |
0.220 | gestational diabetes | The other polymorphisms studied were not significantly associated with gestation... | BeFree | 17342473 | Detail |
<0.001 | gestational diabetes | The other polymorphisms studied were not significantly associated with gestation... | BeFree | 17342473 | Detail |
0.005 | sarcoidosis | Peroxisome proliferator-activated receptor gamma/Pro12Ala polymorphism and perox... | BeFree | 19070258 | Detail |
0.287 | Diabetes Mellitus, Non-Insulin-Dependent | We investigated the effects of the common polymorphisms in the peroxisome prolif... | BeFree | 20045142 | Detail |
0.007 | gestational diabetes | The other polymorphisms studied were not significantly associated with gestation... | BeFree | 17342473 | Detail |
0.287 | Diabetes Mellitus, Non-Insulin-Dependent | The present study demonstrates that the AA genotype of the Gly482Ser polymorphis... | BeFree | 15782399 | Detail |
0.009 | sarcoidosis | Peroxisome proliferator-activated receptor gamma/Pro12Ala polymorphism and perox... | BeFree | 19070258 | Detail |
0.287 | Diabetes Mellitus, Non-Insulin-Dependent | Evidence for interaction between PPARG Pro12Ala and PPARGC1A Gly482Ser polymorph... | BeFree | 19536736 | Detail |
0.393 | Diabetes Mellitus, Non-Insulin-Dependent | Evidence for interaction between PPARG Pro12Ala and PPARGC1A Gly482Ser polymorph... | BeFree | 19536736 | Detail |
<0.001 | gestational diabetes | The other polymorphisms studied were not significantly associated with gestation... | BeFree | 17342473 | Detail |
0.374 | Diabetes Mellitus, Non-Insulin-Dependent | Together, these results showed that PPARG Pro12Ala and PPARGC1A Gly482Ser varian... | BeFree | 19536736 | Detail |
0.081 | diabetic retinopathy | The present study demonstrates that the AA genotype of the Gly482Ser polymorphis... | BeFree | 15782399 | Detail |
0.102 | obesity | The PPARGC1A rs8192678 risk A allele is associated with an increased risk of NAF... | BeFree | 23269818 | Detail |
0.030 | obesity | The PPARGC1A rs8192678 risk A allele is associated with an increased risk of NAF... | BeFree | 23269818 | Detail |
0.082 | Non-alcoholic Fatty Liver Disease | The PPARGC1A rs8192678 risk A allele is associated with an increased risk of NAF... | BeFree | 23269818 | Detail |
0.287 | Diabetes Mellitus, Non-Insulin-Dependent | Meta-analysis of the Gly482Ser variant in PPARGC1A in type 2 diabetes and relate... | BeFree | 16435105 | Detail |
0.011 | diabetes mellitus | The Gly482Ser polymorphism in peroxisome proliferator-activated receptor gamma c... | BeFree | 19077249 | Detail |
0.287 | Diabetes Mellitus, Non-Insulin-Dependent | A single nucleotide polymorphism within the coding region of the PGC-1 gene pred... | BeFree | 12606537 | Detail |
0.003 | Metabolic Diseases | Our findings confirm that sex and age should be considered when investigating th... | BeFree | 16474966 | Detail |
0.028 | Hypertensive disease | To assess the effect of ethnicity, the association of WC, WHR and hypertension a... | BeFree | 25773007 | Detail |
0.439 | obesity | The variant allele of the Gly482Ser polymorphism in peroxisome proliferator-acti... | BeFree | 16474966 | Detail |
0.287 | Diabetes Mellitus, Non-Insulin-Dependent | Association of the PGC-1α rs8192678 variant with microalbuminuria in subjects wi... | BeFree | 22684233 | Detail |
0.154 | Diabetes Mellitus, Non-Insulin-Dependent | Furthermore, a potential interaction between the Pro12Ala polymorphism of PPAR-g... | BeFree | 11793024 | Detail |
0.287 | Diabetes Mellitus, Non-Insulin-Dependent | The variant allele of the Gly482Ser polymorphism in peroxisome proliferator-acti... | BeFree | 16474966 | Detail |
0.082 | Non-alcoholic Fatty Liver Disease | Although clinical evidence suggests that Gly482Ser polymorphism of PGC-1α is ass... | BeFree | 23602251 | Detail |
0.287 | Diabetes Mellitus, Non-Insulin-Dependent | The Gly482Ser variant of the PPARGC1 gene is associated with Type 2 diabetes mel... | BeFree | 16978372 | Detail |
0.287 | Diabetes Mellitus, Non-Insulin-Dependent | The prevalent Gly482Ser variant in PGC-1 was shown to be associated with type 2 ... | BeFree | 15146371 | Detail |
<0.001 | Hypertensive disease | To assess the effect of ethnicity, the association of WC, WHR and hypertension a... | BeFree | 25773007 | Detail |
0.028 | Hypertensive disease | The Gly482Ser polymorphism in peroxisome proliferator-activated receptor gamma c... | BeFree | 19077249 | Detail |
0.393 | Diabetes Mellitus, Non-Insulin-Dependent | Effects of the peroxisome proliferator activated receptor-γ coactivator-1α (PGC-... | BeFree | 20498286 | Detail |
0.287 | Diabetes Mellitus, Non-Insulin-Dependent | Genetic studies have suggested that Gly482Ser polymorphism of the PGC-1alpha gen... | BeFree | 18614852 | Detail |
0.287 | Diabetes Mellitus, Non-Insulin-Dependent | The objective of the study was to o investigate the relationship of the Gly482Se... | BeFree | 19913841 | Detail |
0.287 | Diabetes Mellitus, Non-Insulin-Dependent | Here, we assessed the association between the Gly482Ser variant of PPARGC1 and t... | BeFree | 15599700 | Detail |
0.102 | obesity | The Gly482Ser missense mutation of the peroxisome proliferator-activated recepto... | BeFree | 16403952 | Detail |
0.287 | Diabetes Mellitus, Non-Insulin-Dependent | A Gly482Ser polymorphism of the peroxisome proliferator-activated receptor-gamma... | BeFree | 15581067 | Detail |
0.028 | Hypertensive disease | We have observed a sex-specific association between the PPARGC-1 gene Gly482Ser ... | BeFree | 15599700 | Detail |
0.028 | Hypertensive disease | Genetic studies have suggested that Gly482Ser polymorphism of the PGC-1alpha gen... | BeFree | 18614852 | Detail |
0.393 | Diabetes Mellitus, Non-Insulin-Dependent | The variant allele of the Gly482Ser polymorphism in peroxisome proliferator-acti... | BeFree | 16474966 | Detail |
0.003 | coronary artery disease | In this study, we evaluate whether the PPARGC1A Gly482Ser, PPARG3 (-681)C/G, PPA... | BeFree | 20512451 | Detail |
0.102 | obesity | Increased risk of obesity associated with the variant allele of the PPARGC1A Gly... | BeFree | 16474966 | Detail |
0.231 | obesity | The Gly482Ser missense mutation of the peroxisome proliferator-activated recepto... | BeFree | 16403952 | Detail |
0.207 | Hypertensive disease | To assess the effect of ethnicity, the association of WC, WHR and hypertension a... | BeFree | 25773007 | Detail |
0.287 | Diabetes Mellitus, Non-Insulin-Dependent | Effects of the peroxisome proliferator activated receptor-γ coactivator-1α (PGC-... | BeFree | 20498286 | Detail |
0.003 | Diabetes | The Gly482Ser polymorphism in peroxisome proliferator-activated receptor gamma c... | BeFree | 19077249 | Detail |
0.393 | Diabetes Mellitus, Non-Insulin-Dependent | The objective of the study was to o investigate the relationship of the Gly482Se... | BeFree | 19913841 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_013261.5(PPARGC1A):c.1444G>A (p.Gly482Ser) AND PPARGC1A-related disorder | ClinVar | Detail |
Under an additive genetic model, the C allele of ADRB3-rs4994, the C allele of ENPP1-rs1044498, and ... | DisGeNET | Detail |
Under an additive genetic model, the C allele of ADRB3-rs4994, the C allele of ENPP1-rs1044498, and ... | DisGeNET | Detail |
Under an additive genetic model, the C allele of ADRB3-rs4994, the C allele of ENPP1-rs1044498, and ... | DisGeNET | Detail |
The other polymorphisms studied were not significantly associated with gestational diabetes mellitus... | DisGeNET | Detail |
The other polymorphisms studied were not significantly associated with gestational diabetes mellitus... | DisGeNET | Detail |
The other polymorphisms studied were not significantly associated with gestational diabetes mellitus... | DisGeNET | Detail |
Peroxisome proliferator-activated receptor gamma/Pro12Ala polymorphism and peroxisome proliferator-a... | DisGeNET | Detail |
We investigated the effects of the common polymorphisms in the peroxisome proliferator-activated rec... | DisGeNET | Detail |
The other polymorphisms studied were not significantly associated with gestational diabetes mellitus... | DisGeNET | Detail |
The present study demonstrates that the AA genotype of the Gly482Ser polymorphism in the PPARGC1 gen... | DisGeNET | Detail |
Peroxisome proliferator-activated receptor gamma/Pro12Ala polymorphism and peroxisome proliferator-a... | DisGeNET | Detail |
Evidence for interaction between PPARG Pro12Ala and PPARGC1A Gly482Ser polymorphisms in determining ... | DisGeNET | Detail |
Evidence for interaction between PPARG Pro12Ala and PPARGC1A Gly482Ser polymorphisms in determining ... | DisGeNET | Detail |
The other polymorphisms studied were not significantly associated with gestational diabetes mellitus... | DisGeNET | Detail |
Together, these results showed that PPARG Pro12Ala and PPARGC1A Gly482Ser variants are associated, a... | DisGeNET | Detail |
The present study demonstrates that the AA genotype of the Gly482Ser polymorphism in the PPARGC1 gen... | DisGeNET | Detail |
The PPARGC1A rs8192678 risk A allele is associated with an increased risk of NAFLD, independent of t... | DisGeNET | Detail |
The PPARGC1A rs8192678 risk A allele is associated with an increased risk of NAFLD, independent of t... | DisGeNET | Detail |
The PPARGC1A rs8192678 risk A allele is associated with an increased risk of NAFLD, independent of t... | DisGeNET | Detail |
Meta-analysis of the Gly482Ser variant in PPARGC1A in type 2 diabetes and related phenotypes. | DisGeNET | Detail |
The Gly482Ser polymorphism in peroxisome proliferator-activated receptor gamma coactivator-1 alpha (... | DisGeNET | Detail |
A single nucleotide polymorphism within the coding region of the PGC-1 gene predicts a glycine to se... | DisGeNET | Detail |
Our findings confirm that sex and age should be considered when investigating the influence of the P... | DisGeNET | Detail |
To assess the effect of ethnicity, the association of WC, WHR and hypertension along with PGC-1α (Gl... | DisGeNET | Detail |
The variant allele of the Gly482Ser polymorphism in peroxisome proliferator-activated receptor-gamma... | DisGeNET | Detail |
Association of the PGC-1α rs8192678 variant with microalbuminuria in subjects with type 2 diabetes m... | DisGeNET | Detail |
Furthermore, a potential interaction between the Pro12Ala polymorphism of PPAR-gamma2 and the PGC-1 ... | DisGeNET | Detail |
The variant allele of the Gly482Ser polymorphism in peroxisome proliferator-activated receptor-gamma... | DisGeNET | Detail |
Although clinical evidence suggests that Gly482Ser polymorphism of PGC-1α is associated with an incr... | DisGeNET | Detail |
The Gly482Ser variant of the PPARGC1 gene is associated with Type 2 diabetes mellitus in northern Ch... | DisGeNET | Detail |
The prevalent Gly482Ser variant in PGC-1 was shown to be associated with type 2 diabetes in some but... | DisGeNET | Detail |
To assess the effect of ethnicity, the association of WC, WHR and hypertension along with PGC-1α (Gl... | DisGeNET | Detail |
The Gly482Ser polymorphism in peroxisome proliferator-activated receptor gamma coactivator-1 alpha (... | DisGeNET | Detail |
Effects of the peroxisome proliferator activated receptor-γ coactivator-1α (PGC-1α) Thr394Thr and Gl... | DisGeNET | Detail |
Genetic studies have suggested that Gly482Ser polymorphism of the PGC-1alpha gene is associated with... | DisGeNET | Detail |
The objective of the study was to o investigate the relationship of the Gly482Ser (G482S) polymorphi... | DisGeNET | Detail |
Here, we assessed the association between the Gly482Ser variant of PPARGC1 and the arterial hyperten... | DisGeNET | Detail |
The Gly482Ser missense mutation of the peroxisome proliferator-activated receptor gamma coactivator-... | DisGeNET | Detail |
A Gly482Ser polymorphism of the peroxisome proliferator-activated receptor-gamma coactivator-1 (PGC-... | DisGeNET | Detail |
We have observed a sex-specific association between the PPARGC-1 gene Gly482Ser polymorphism and art... | DisGeNET | Detail |
Genetic studies have suggested that Gly482Ser polymorphism of the PGC-1alpha gene is associated with... | DisGeNET | Detail |
The variant allele of the Gly482Ser polymorphism in peroxisome proliferator-activated receptor-gamma... | DisGeNET | Detail |
In this study, we evaluate whether the PPARGC1A Gly482Ser, PPARG3 (-681)C/G, PPARD +294T/C, and CYBA... | DisGeNET | Detail |
Increased risk of obesity associated with the variant allele of the PPARGC1A Gly482Ser polymorphism ... | DisGeNET | Detail |
The Gly482Ser missense mutation of the peroxisome proliferator-activated receptor gamma coactivator-... | DisGeNET | Detail |
To assess the effect of ethnicity, the association of WC, WHR and hypertension along with PGC-1α (Gl... | DisGeNET | Detail |
Effects of the peroxisome proliferator activated receptor-γ coactivator-1α (PGC-1α) Thr394Thr and Gl... | DisGeNET | Detail |
The Gly482Ser polymorphism in peroxisome proliferator-activated receptor gamma coactivator-1 alpha (... | DisGeNET | Detail |
The objective of the study was to o investigate the relationship of the Gly482Ser (G482S) polymorphi... | 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
- -
- Genome
- hg19
- Position
- chr4:23,815,662-23,815,662
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 133.40
- Standard deviation of sample read depth (HGVD)
- 62.39
- Number of reference allele (HGVD)
- 1311
- Number of alternative allele (HGVD)
- 1109
- Allele Frequency (HGVD)
- 0.45826446280991734
- Gene Symbol (HGVD)
- PPARGC1A
- 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))
- rs8192678
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.473
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7928
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8618
- East Asian Allele Counts (ExAC)
- 3730
- East Asian Heterozygous Counts (ExAC)
- 2064
- East Asian Homozygous Counts (ExAC)
- 833
- East Asian Allele Frequency (ExAC)
- 0.43281503829194706
- Chromosome Counts in All Race (ExAC)
- 121268
- Allele Counts in All Race (ExAC)
- 37362
- Heterozygous Counts in All Race (ExAC)
- 24984
- Homozygous Counts in All Race (ExAC)
- 6189
- Allele Frequency in All Race (ExAC)
- 0.3080944684500445
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