RGD:156297700 Rat Genome Database

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Variant: RGD:156297700 -  Homo sapiens

RGD ID: 156297700
ClinVar ID: CV2186178
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PPARG  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 12,393,099
GRCh38 3 12,351,600
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001354670.2:c.-2-28104A>G
NM_001374266.1:c.-2-28104A>G
NM_001354669.2:c.-435-28104A>G
NM_001330615.4:c.-8-28104A>G
More... 		10/13/2023 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PPARG
Accession:NM_001354670
Location:5UTRS;INTRON

Gene Symbol:PPARG
Accession:NM_001354666
Location:5UTRS;INTRON

Gene Symbol:PPARG
Accession:NM_001330615
Location:5UTRS;INTRON

Gene Symbol:PPARG
Accession:NM_138711
Location:5UTRS;INTRON

Gene Symbol:PPARG
Accession:NM_001374262
Location:5UTRS;INTRON

Gene Symbol:PPARG
Accession:NM_001374263
Location:5UTRS;INTRON

Gene Symbol:PPARG
Accession:NM_001354669
Location:5UTRS;INTRON

Gene Symbol:PPARG
Accession:NM_001374266
Location:5UTRS;INTRON

Gene Symbol:PPARG
Accession:NM_001354667
Location:5UTRS;INTRON

Gene Symbol:PPARG
Accession:NM_138712
Location:5UTRS;INTRON

Gene Symbol:PPARG
Accession:NM_005037
Location:5UTRS;INTRON

Gene Symbol:PPARG
Accession:NM_001374261
Location:5UTRS;INTRON

Gene Symbol:PPARG
Accession:NM_001374264
Location:5UTRS;INTRON

Gene Symbol:PPARG
Accession:NM_001354668
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGTLGDSPIDPESDSFTDTLSANISQEMTMVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISTPHYED
IPFTRTDPVVADYKYDLKLQEYQSAIKVEPASPPYYSEKTQLYNKPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCK
GFFRRTIRLKLIYDRCDLNCRIHKKSRNKCQYCRFQKCLAVGMSHNAIRFGRMPQAEKEKLLAEISSDIDQLNPESADLR
ALAKHLYDSYIKSFPLTKAKARAILTGKTTDKSVSSLLLSSLGEAGSCFGFLFL*

Gene Symbol:PPARG
Accession:NM_001374265
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGTLGDSPIDPESDSFTDTLSANISQEMTMVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISTPHYED
IPFTRTDPVVADYKYDLKLQEYQSAIKVEPASPPYYSEKTQLYNKPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCK
GFFRRTIRLKLIYDRCDLNCRIHKKSRNKCQYCRFQKCLAVGMSHNAIRFGRMPQAEKEKLLAEISSDIDQLNPESADLR
ALAKHLYDSYIKSFPLTKAKARAILTGKTTDKSTAQVC*

Gene Symbol:PPARG
Accession:NM_015869
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGGTLGDSPIDPESDSFTDTLSANISQEMTMVDTEMPFWPTNFGISSVDLSVMEDHSHSFDIKPFTTVDFSSISTPHYED
IPFTRTDPVVADYKYDLKLQEYQSAIKVEPASPPYYSEKTQLYNKPHEEPSNSLMAIECRVCGDKASGFHYGVHACEGCK
GFFRRTIRLKLIYDRCDLNCRIHKKSRNKCQYCRFQKCLAVGMSHNAIRFGRMPQAEKEKLLAEISSDIDQLNPESADLR
ALAKHLYDSYIKSFPLTKAKARAILTGKTTDKSPFVIYDMNSLMMGEDKIKFKHITPLQEQSKEVAIRIFQGCQFRSVEA
VQEITEYAKSIPGFVNLDLNDQVTLLKYGVHEIIYTMLASLMNKDGVLISEGQGFMTREFLKSLRKPFGDFMEPKFEFAV
KFNALELDDSDLAIFIAVIILSGDRPGLLNVKPIEDIQDNLLQALELQLKLNHPESSQLFAKLLQKMTDLRQIVTEHVQL
LQVIKKTETDMSLHPLLQEIYKDLY*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003061812 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PPARG CLINVAR
OMIM 601487 CLINVAR