chr3:12381349:C>A Detail (hg38) (PPARG)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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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

PPARG

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
Ensemble	ENST00000287820.10:c.338C>A	ENST00000287820.10:p.Pro113Gln
	ENST00000309576.11:c.248C>A	ENST00000309576.11:p.Pro83Gln
	ENST00000397000.6:c.248C>A	ENST00000397000.6:p.Pro83Gln
	ENST00000397010.7:c.248C>A	ENST00000397010.7:p.Pro83Gln
	ENST00000397015.7:c.248C>A	ENST00000397015.7:p.Pro83Gln
	ENST00000397026.7:c.248C>A	ENST00000397026.7:p.Pro83Gln
	ENST00000643197.2:c.248C>A	ENST00000643197.2:p.Pro83Gln
	ENST00000643888.2:c.248C>A	ENST00000643888.2:p.Pro83Gln
	ENST00000644622.2:c.248C>A	ENST00000644622.2:p.Pro83Gln
	ENST00000651735.1:c.248C>A	ENST00000651735.1:p.Pro83Gln
	ENST00000652098.1:c.-17-24533C>A
	ENST00000652431.1:c.-65C>A
	ENST00000681982.1:c.248C>A	ENST00000681982.1:p.Pro83Gln
	ENST00000682446.1:c.248C>A	ENST00000682446.1:p.Pro83Gln
	ENST00000683586.1:c.248C>A	ENST00000683586.1:p.Pro83Gln
	ENST00000683699.1:c.338C>A	ENST00000683699.1:p.Pro113Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
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Links

PPARG

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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1999-12-01	no assertion criteria provided	morbid obesity	germline	Detail
Uncertain significance	2024-01-09	criteria provided, single submitter	not provided	germline	Detail

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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