chr4:23814039:C>T Detail (hg38) (PPARGC1A)

Information

Genome

Assembly Position
hg19 chr4:23,815,662-23,815,662 View the variant detail on this assembly version.
hg38 chr4:23,814,039-23,814,039

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 Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 604517 OMIM
HGNC 9237 HGNC
Ensembl ENSG00000109819 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv16394997 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-10-17 criteria provided, single submitter PPARGC1A-related disorder germline 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

DescrptionSourceLinks
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
hg38
Position
chr4:23,814,039-23,814,039
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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