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 Uncertain significance
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
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

DescrptionSourceLinks
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
Genome browser