chr3:12434058:C>T Detail (hg38) (PPARG)

Information

Genome

Assembly Position
hg19 chr3:12,475,557-12,475,557 View the variant detail on this assembly version.
hg38 chr3:12,434,058-12,434,058

HGVS

Type Transcript Protein
RefSeq NM_015869.4:c.1431C>T NP_056953.2:p.His477=
NM_138712.3:c.1341C>T NP_619726.2:p.His447=
NM_005037.5:c.1341C>T NP_005028.4:p.His447=
Summary

MGeND

Clinical significance Benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.160
ToMMo:0.146
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.239

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 601487 OMIM
HGNC 9236 HGNC
Ensembl ENSG00000132170 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv11499279 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline MGS000068
(TMGS000140)
Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2000-06-01 no assertion criteria provided Glioma susceptibility 1 germline Detail
Likely benign no assertion criteria provided not specified germline Detail
Likely benign 2017-04-27 criteria provided, single submitter Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension germline Detail
Likely benign 2017-04-27 criteria provided, single submitter PPARG-related familial partial lipodystrophy germline Detail
Likely benign 2017-04-27 criteria provided, single submitter obesity germline Detail
Benign 2024-01-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2003-12-01 no assertion criteria provided PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA POLYMORPHISM germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.145 Metabolic syndrome X Analysis of the haplotype and linkage disequilibrium of PPARγ gene polymorphisms... BeFree 25366759 Detail
0.022 Malignant neoplasm of breast Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in P... BeFree 24338422 Detail
0.008 breast carcinoma Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in P... BeFree 24338422 Detail
0.127 Obesity, Morbid In this study, we investigated the association of PPAR-γ gene Pro12Ala (rs180128... BeFree 22410809 Detail
0.163 diabetes mellitus Differential effects of the C1431T and Pro12Ala PPARgamma gene variants on plasm... BeFree 14729856 Detail
0.439 obesity The association of the C1431T silent mutation and the Pro12Ala missense transver... BeFree 18250615 Detail
0.258 Hypertensive disease To explore the relationship between the genetic polymorphisms of PPARgamma (Pro1... BeFree 19651920 Detail
<0.001 premature menopause Four SNPs (rs2167270 of LEP and rs1801282, rs2120825, and rs3856806 of PPARγ) we... BeFree 22537818 Detail
0.393 Diabetes Mellitus, Non-Insulin-Dependent Association of the Pro12Ala and C1431T variants of PPARG and their haplotypes wi... BeFree 14730381 Detail
0.017 Diabetes Differential effects of the C1431T and Pro12Ala PPARgamma gene variants on plasm... BeFree 14729856 Detail
<0.001 premature menopause Four SNPs (rs2167270 of LEP and rs1801282, rs2120825, and rs3856806 of PPARγ) we... BeFree 22537818 Detail
0.163 diabetes mellitus Another PPARγ polymorphism, the C1431T, is in strong linkage disequilibrium with... BeFree 21795447 Detail
0.007 gestational diabetes Association of the Pro12Ala and C1431T variants of PPARgamma and their haplotype... BeFree 21795447 Detail
0.145 Metabolic syndrome X Associations between C1431T and Pro12Ala variants of PPARγ gene and their haplot... BeFree 24464185 Detail
0.017 Diabetes Another PPARγ polymorphism, the C1431T, is in strong linkage disequilibrium with... BeFree 21795447 Detail
0.010 Coronary Arteriosclerosis Association between C1431T polymorphism in peroxisome proliferator-activated rec... BeFree 21643757 Detail
0.017 Diabetes The C1431T polymorphism in peroxisome proliferator-activated receptor-γ (PPARγ) ... BeFree 21643757 Detail
0.145 Metabolic syndrome X The C1431T polymorphism of peroxisome proliferator activated receptor-γ (PPAR-γ)... BeFree 25896411 Detail
0.010 Coronary Arteriosclerosis Impact of the C1431T Polymorphism of the Peroxisome Proliferator Activated Recep... BeFree 25896411 Detail
0.017 Diabetes The C1431T polymorphism of peroxisome proliferator activated receptor-γ (PPAR-γ)... BeFree 25896411 Detail
0.039 colorectal cancer On the contrary, two other SNPs, PLA2G2A c.435+230C&gt;T and PPARG c.1431C&gt;T ... BeFree 18992148 Detail
0.128 Dyslipidemias We investigated the association of PPAR-γ C1431T-polymorphism with CAD and dysli... BeFree 25896411 Detail
0.439 obesity The C1431T polymorphism in peroxisome proliferator-activated receptor-γ (PPARγ) ... BeFree 21643757 Detail
0.020 coronary artery disease Impact of the C1431T Polymorphism of the Peroxisome Proliferator Activated Recep... BeFree 25896411 Detail
0.026 Coronary heart disease Association between C1431T polymorphism in peroxisome proliferator-activated rec... BeFree 21643757 Detail
0.006 colorectal cancer On the contrary, two other SNPs, PLA2G2A c.435+230C&gt;T and PPARG c.1431C&gt;T ... BeFree 18992148 Detail
0.145 Metabolic syndrome X The C1431T polymorphism in peroxisome proliferator-activated receptor-γ (PPARγ) ... BeFree 21643757 Detail
0.020 coronary artery disease Association between C1431T polymorphism in peroxisome proliferator-activated rec... BeFree 21643757 Detail
0.026 Coronary heart disease Impact of the C1431T Polymorphism of the Peroxisome Proliferator Activated Recep... BeFree 25896411 Detail
0.163 diabetes mellitus The C1431T polymorphism in peroxisome proliferator-activated receptor-γ (PPARγ) ... BeFree 21643757 Detail
0.163 diabetes mellitus The C1431T polymorphism of peroxisome proliferator activated receptor-γ (PPAR-γ)... BeFree 25896411 Detail
0.145 Metabolic syndrome X We concluded that the CC genotype of C1431T in the PPARγ2 gene together with low... BeFree 21156835 Detail
0.002 Diabetes A total of 792 patients with T2DM were enrolled and categorized into two groups:... BeFree 25274455 Detail
<0.001 Retinal Diseases A total of 792 patients with T2DM were enrolled and categorized into two groups:... BeFree 25274455 Detail
<0.001 Retinal Diseases A total of 792 patients with T2DM were enrolled and categorized into two groups:... BeFree 25274455 Detail
0.002 diabetes mellitus A total of 792 patients with T2DM were enrolled and categorized into two groups:... BeFree 25274455 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_138711.6(PPARG):c.1341C>T (p.His447=) AND Glioma susceptibility 1 ClinVar Detail
NM_138711.6(PPARG):c.1341C>T (p.His447=) AND not specified ClinVar Detail
NM_138711.6(PPARG):c.1341C>T (p.His447=) AND Diabetes Mellitus, Noninsulin-Dependent, with Acanthosi... ClinVar Detail
NM_138711.6(PPARG):c.1341C>T (p.His447=) AND PPARG-related familial partial lipodystrophy ClinVar Detail
NM_138711.6(PPARG):c.1341C>T (p.His447=) AND Obesity ClinVar Detail
NM_138711.6(PPARG):c.1341C>T (p.His447=) AND not provided ClinVar Detail
NM_138711.6(PPARG):c.1341C>T (p.His447=) AND PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA POLYMO... ClinVar Detail
Analysis of the haplotype and linkage disequilibrium of PPARγ gene polymorphisms rs3856806, rs124902... DisGeNET Detail
Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in POU5F1P1, rs989902 in... DisGeNET Detail
Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in POU5F1P1, rs989902 in... DisGeNET Detail
In this study, we investigated the association of PPAR-γ gene Pro12Ala (rs1801282) and C1431T (rs385... DisGeNET Detail
Differential effects of the C1431T and Pro12Ala PPARgamma gene variants on plasma lipids and diabete... DisGeNET Detail
The association of the C1431T silent mutation and the Pro12Ala missense transversion within the PPAR... DisGeNET Detail
To explore the relationship between the genetic polymorphisms of PPARgamma (Pro12Ala, C1431T, and C-... DisGeNET Detail
Four SNPs (rs2167270 of LEP and rs1801282, rs2120825, and rs3856806 of PPARγ) were associated with e... DisGeNET Detail
Association of the Pro12Ala and C1431T variants of PPARG and their haplotypes with susceptibility to... DisGeNET Detail
Differential effects of the C1431T and Pro12Ala PPARgamma gene variants on plasma lipids and diabete... DisGeNET Detail
Four SNPs (rs2167270 of LEP and rs1801282, rs2120825, and rs3856806 of PPARγ) were associated with e... DisGeNET Detail
Another PPARγ polymorphism, the C1431T, is in strong linkage disequilibrium with Pro12Ala and has be... DisGeNET Detail
Association of the Pro12Ala and C1431T variants of PPARgamma and their haplotypes with susceptibilit... DisGeNET Detail
Associations between C1431T and Pro12Ala variants of PPARγ gene and their haplotypes with susceptibi... DisGeNET Detail
Another PPARγ polymorphism, the C1431T, is in strong linkage disequilibrium with Pro12Ala and has be... DisGeNET Detail
Association between C1431T polymorphism in peroxisome proliferator-activated receptor-γ gene and cor... DisGeNET Detail
The C1431T polymorphism in peroxisome proliferator-activated receptor-γ (PPARγ) has been shown to be... DisGeNET Detail
The C1431T polymorphism of peroxisome proliferator activated receptor-γ (PPAR-γ) gene is related to ... DisGeNET Detail
Impact of the C1431T Polymorphism of the Peroxisome Proliferator Activated Receptor-Gamma (PPAR-γ) G... DisGeNET Detail
The C1431T polymorphism of peroxisome proliferator activated receptor-γ (PPAR-γ) gene is related to ... DisGeNET Detail
On the contrary, two other SNPs, PLA2G2A c.435+230C&gt;T and PPARG c.1431C&gt;T (p.His477His), were ... DisGeNET Detail
We investigated the association of PPAR-γ C1431T-polymorphism with CAD and dyslipidaemia in 787 indi... DisGeNET Detail
The C1431T polymorphism in peroxisome proliferator-activated receptor-γ (PPARγ) has been shown to be... DisGeNET Detail
Impact of the C1431T Polymorphism of the Peroxisome Proliferator Activated Receptor-Gamma (PPAR-γ) G... DisGeNET Detail
Association between C1431T polymorphism in peroxisome proliferator-activated receptor-γ gene and cor... DisGeNET Detail
On the contrary, two other SNPs, PLA2G2A c.435+230C&gt;T and PPARG c.1431C&gt;T (p.His477His), were ... DisGeNET Detail
The C1431T polymorphism in peroxisome proliferator-activated receptor-γ (PPARγ) has been shown to be... DisGeNET Detail
Association between C1431T polymorphism in peroxisome proliferator-activated receptor-γ gene and cor... DisGeNET Detail
Impact of the C1431T Polymorphism of the Peroxisome Proliferator Activated Receptor-Gamma (PPAR-γ) G... DisGeNET Detail
The C1431T polymorphism in peroxisome proliferator-activated receptor-γ (PPARγ) has been shown to be... DisGeNET Detail
The C1431T polymorphism of peroxisome proliferator activated receptor-γ (PPAR-γ) gene is related to ... DisGeNET Detail
We concluded that the CC genotype of C1431T in the PPARγ2 gene together with low cardiorespiratory f... DisGeNET Detail
A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group co... DisGeNET Detail
A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group co... DisGeNET Detail
A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group co... DisGeNET Detail
A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group co... 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
rs3856806 dbSNP
Genome
hg38
Position
chr3:12,434,058-12,434,058
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
105.98
Standard deviation of sample read depth (HGVD)
51.45
Number of reference allele (HGVD)
2032
Number of alternative allele (HGVD)
388
Allele Frequency (HGVD)
0.16033057851239668
Gene Symbol (HGVD)
PPARG
Homozygous Counts in All Race (ExAC)
1254
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))
rs3856806
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1459
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2446
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)
2058
East Asian Heterozygous Counts (ExAC)
1580
East Asian Homozygous Counts (ExAC)
239
East Asian Allele Frequency (ExAC)
0.2388025063819912
Chromosome Counts in All Race (ExAC)
121200
Allele Counts in All Race (ExAC)
16239
Heterozygous Counts in All Race (ExAC)
13731
Allele Frequency in All Race (ExAC)
0.1339851485148515
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