RGD:34894135 Rat Genome Database

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Variant: RGD:34894135 -  Homo sapiens

RGD ID: 34894135
RS ID: rs1176746892
ClinVar ID: CV905745
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPARG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 12,458,305
GRCh38 3 12,416,806
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001374266.1:c.653+10807C>T
NM_001374264.2:c.832C>T
NM_005037.7:c.832C>T
NP_001341596.2:p.Arg278Cys
More... 		12/07/2018 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PPARG
Accession:NM_005037
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISTPHYEDIPFTRTDPVVADYKYDLKLQEYQSAIKVEP
ASPPYYSEKTQLYNKPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCKGFFRRTIRLKLIYDRCDLNCRIHKKSRNKC
QYCRFQKCLAVGMSHNAIRFGRMPQAEKEKLLAEISSDIDQLNPESADLRALAKHLYDSYIKSFPLTKAKARAILTGKTT
DKSPFVIYDMNSLMMGEDKIKFKHITPLQEQSKEVAICIFQGCQFRSVEAVQEITEYAKSIPGFVNLDLNDQVTLLKYGV
HEIIYTMLASLMNKDGVLISEGQGFMTREFLKSLRKPFGDFMEPKFEFAVKFNALELDDSDLAIFIAVIILSGDRPGLLN
VKPIEDIQDNLLQALELQLKLNHPESSQLFAKLLQKMTDLRQIVTEHVQLLQVIKKTETDMSLHPLLQEIYKDLY*

Gene Symbol:PPARG
Accession:NM_001374264
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISTPHYEDIPFTRTDPVVADYKYDLKLQEYQSAIKVEP
ASPPYYSEKTQLYNKPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCKGFFRRTIRLKLIYDRCDLNCRIHKKSRNKC
QYCRFQKCLAVGMSHNAIRFGRMPQAEKEKLLAEISSDIDQLNPESADLRALAKHLYDSYIKSFPLTKAKARAILTGKTT
DKSPFVIYDMNSLMMGEDKIKFKHITPLQEQSKEVAICIFQGCQFRSVEAVQEITEYAKSIPGFVNLDLNDQVTLLKYGV
HEIIYTMLASLMNKDGVLISEGQGFMTREFLKSLRKPFGDFMEPKFEFAVKFNALELDDSDLAIFIAVIILSGDRPGLLN
VKPIEDIQDNLLQALELQLKLNHPESSQLFAKLLQKMTDLRQIVTEHVQLLQVIKKTETDMSLHPLLQEIYKDLY*

Gene Symbol:PPARG
Accession:NM_001354666
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISTPHYEDIPFTRTDPVVADYKYDLKLQEYQSAIKVEP
ASPPYYSEKTQLYNKPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCKGFFRRTIRLKLIYDRCDLNCRIHKKSRNKC
QYCRFQKCLAVGMSHNAIRFGRMPQAEKEKLLAEISSDIDQLNPESADLRALAKHLYDSYIKSFPLTKAKARAILTGKTT
DKSPFVIYDMNSLMMGEDKIKFKHITPLQEQSKEVAICIFQGCQFRSVEAVQEITEYAKSIPGFVNLDLNDQVTLLKYGV
HEIIYTMLASLMNKDGVLISEGQGFMTREFLKSLRKPFGDFMEPKFEFAVKFNALELDDSDLAIFIAVIILSGDRPGLLN
VKPIEDIQDNLLQALELQLKLNHPESSQLFAKLLQKMTDLRQIVTEHVQLLQVIKKTETDMSLHPLLQEIYKDLY*

Gene Symbol:PPARG
Accession:NM_138712
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISTPHYEDIPFTRTDPVVADYKYDLKLQEYQSAIKVEP
ASPPYYSEKTQLYNKPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCKGFFRRTIRLKLIYDRCDLNCRIHKKSRNKC
QYCRFQKCLAVGMSHNAIRFGRMPQAEKEKLLAEISSDIDQLNPESADLRALAKHLYDSYIKSFPLTKAKARAILTGKTT
DKSPFVIYDMNSLMMGEDKIKFKHITPLQEQSKEVAICIFQGCQFRSVEAVQEITEYAKSIPGFVNLDLNDQVTLLKYGV
HEIIYTMLASLMNKDGVLISEGQGFMTREFLKSLRKPFGDFMEPKFEFAVKFNALELDDSDLAIFIAVIILSGDRPGLLN
VKPIEDIQDNLLQALELQLKLNHPESSQLFAKLLQKMTDLRQIVTEHVQLLQVIKKTETDMSLHPLLQEIYKDLY*

Gene Symbol:PPARG
Accession:NM_001354667
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISTPHYEDIPFTRTDPVVADYKYDLKLQEYQSAIKVEP
ASPPYYSEKTQLYNKPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCKGFFRRTIRLKLIYDRCDLNCRIHKKSRNKC
QYCRFQKCLAVGMSHNAIRFGRMPQAEKEKLLAEISSDIDQLNPESADLRALAKHLYDSYIKSFPLTKAKARAILTGKTT
DKSPFVIYDMNSLMMGEDKIKFKHITPLQEQSKEVAICIFQGCQFRSVEAVQEITEYAKSIPGFVNLDLNDQVTLLKYGV
HEIIYTMLASLMNKDGVLISEGQGFMTREFLKSLRKPFGDFMEPKFEFAVKFNALELDDSDLAIFIAVIILSGDRPGLLN
VKPIEDIQDNLLQALELQLKLNHPESSQLFAKLLQKMTDLRQIVTEHVQLLQVIKKTETDMSLHPLLQEIYKDLY*

Gene Symbol:PPARG
Accession:NM_015869
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 308
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGETLGDSPIDPESDSFTDTLSANISQEMTMVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISTPHYED
IPFTRTDPVVADYKYDLKLQEYQSAIKVEPASPPYYSEKTQLYNKPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCK
GFFRRTIRLKLIYDRCDLNCRIHKKSRNKCQYCRFQKCLAVGMSHNAIRFGRMPQAEKEKLLAEISSDIDQLNPESADLR
ALAKHLYDSYIKSFPLTKAKARAILTGKTTDKSPFVIYDMNSLMMGEDKIKFKHITPLQEQSKEVAICIFQGCQFRSVEA
VQEITEYAKSIPGFVNLDLNDQVTLLKYGVHEIIYTMLASLMNKDGVLISEGQGFMTREFLKSLRKPFGDFMEPKFEFAV
KFNALELDDSDLAIFIAVIILSGDRPGLLNVKPIEDIQDNLLQALELQLKLNHPESSQLFAKLLQKMTDLRQIVTEHVQL
LQVIKKTETDMSLHPLLQEIYKDLY*

Gene Symbol:PPARG
Accession:NM_001354669
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTDVILTVGSTKKVEINVSTVGFRNALQWGCLIMPFVIYDMNSLMMGEDKIKFKHITPLQEQSKEVAICIFQGCQFRSVE
AVQEITEYAKSIPGFVNLDLNDQVTLLKYGVHEIIYTMLASLMNKDGVLISEGQGFMTREFLKSLRKPFGDFMEPKFEFA
VKFNALELDDSDLAIFIAVIILSGDRPGLLNVKPIEDIQDNLLQALELQLKLNHPESSQLFAKLLQKMTDLRQIVTEHVQ
LLQVIKKTETDMSLHPLLQEIYKDLY*

Gene Symbol:PPARG
Accession:NM_001374263
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISTPHYEDIPFTRTDPVVADYKYDLKLQEYQSAIKVEP
ASPPYYSEKTQLYNKPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCKGFFRRTIRLKLIYDRCDLNCRIHKKSRNKC
QYCRFQKCLAVGMSHNAIRFGRMPQAEKEKLLAEISSDIDQLNPESADLRALAKHLYDSYIKSFPLTKAKARAILTGKTT
DKSPFVIYDMNSLMMGEDKIKFKHITPLQEQSKEVAICIFQGCQFRSVEAVQEITEYAKSIPGFVNLDLNDQVTLLKYGV
HEIIYTMLASLMNKDGVLISEGQGFMTREFLKSLRKPFGDFMEPKFEFAVKFNALELDDSDLAIFIAVIILSGDRPGLLN
VKPIEDIQDNLLQALELQLKLNHPESSQLFAKLLQKMTDLRQIVTEHVQLLQVIKKTETDMSLHPLLQEIYKDLY*

Gene Symbol:PPARG
Accession:NM_138711
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISTPHYEDIPFTRTDPVVADYKYDLKLQEYQSAIKVEP
ASPPYYSEKTQLYNKPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCKGFFRRTIRLKLIYDRCDLNCRIHKKSRNKC
QYCRFQKCLAVGMSHNAIRFGRMPQAEKEKLLAEISSDIDQLNPESADLRALAKHLYDSYIKSFPLTKAKARAILTGKTT
DKSPFVIYDMNSLMMGEDKIKFKHITPLQEQSKEVAICIFQGCQFRSVEAVQEITEYAKSIPGFVNLDLNDQVTLLKYGV
HEIIYTMLASLMNKDGVLISEGQGFMTREFLKSLRKPFGDFMEPKFEFAVKFNALELDDSDLAIFIAVIILSGDRPGLLN
VKPIEDIQDNLLQALELQLKLNHPESSQLFAKLLQKMTDLRQIVTEHVQLLQVIKKTETDMSLHPLLQEIYKDLY*

Gene Symbol:PPARG
Accession:NM_001354670
Location:INTRON

Gene Symbol:PPARG
Accession:NM_001374265
Location:INTRON

Gene Symbol:PPARG
Accession:NM_001374262
Location:INTRON

Gene Symbol:PPARG
Accession:NM_001330615
Location:INTRON

Gene Symbol:PPARG
Accession:NM_001374266
Location:INTRON

Gene Symbol:PPARG
Accession:NM_001354668
Location:INTRON

Gene Symbol:PPARG
Accession:NM_001374261
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:27749844  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001174450 CLINVAR
dbSNP (RS) rs1176746892 CLINVAR
MedGen C3888631 CLINVAR
NCBI Gene PPARG CLINVAR
OMIM 601487 CLINVAR