RGD:155992103 Rat Genome Database

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Variant: RGD:155992103 -  Homo sapiens

RGD ID: 155992103
ClinVar ID: CV2063799
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDH3A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 78,454,058
GRCh38 15 78,161,716
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005530.3:c.425T>C
NC_000015.10:g.78161716T>C
NC_000015.9:g.78454058T>C
NP_005521.1:p.Ile142Thr
 06/29/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:IDH3A
Accession:XM_047432429
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIFDAAKAPIQWEERNVTAIQGPGGKWMIPSEAKESMDKNKMGLKGPLKTPIAAGHPSMNLLLRKTFDLYANVRPCVSI
EGYKTPYTDVNTVTIRENTEGEYSGIEHVIVDGVVQSIKLITEGASKRIAEFAFEYARNNHRSNVTAVHKANIMRMSDGL
FLQKCREVAESCKDIKFNEMYLDTVCLNMVQDPSQFDVLVMPNLYGDILSDLCAGLIGGLGVTPSGNIGANGVAIFESVH
GTAPDIAGKDMANPTALLLSAVMMLRHMGLFDHAARIEAACFATIKDGKSLTKDLGGNAKCSDFTEEICRRVKDLD*

Gene Symbol:IDH3A
Accession:XM_047432430
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNLLLRKTFDLYANVRPCVSIEGYKTPYTDVNTVTIRENTEGEYSGIEHVIVDGVVQSIKLITEGASKRIAEFAFEYARN
NHRSNVTAVHKANIMRMSDGLFLQKCREVAESCKDIKFNEMYLDTVCLNMVQDPSQFDVLVMPNLYGDILSDLCAGLIGG
LGVTPSGNIGANGVAIFESVHGTAPDIAGKDMANPTALLLSAVMMLRHMGLFDHAARIEAACFATIKDGKSLTKDLGGNA
KCSDFTEEICRRVKDLD*

Gene Symbol:IDH3A
Accession:NM_005530
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGPAWISKVSRLLGAFHNPKQVTRGFTGGVQTVTLIPGDGIGPEISAAVMKIFDAAKAPIQWEERNVTAIQGPGGKWMI
PSEAKESMDKNKMGLKGPLKTPIAAGHPSMNLLLRKTFDLYANVRPCVSIEGYKTPYTDVNTVTIRENTEGEYSGIEHVI
VDGVVQSIKLITEGASKRIAEFAFEYARNNHRSNVTAVHKANIMRMSDGLFLQKCREVAESCKDIKFNEMYLDTVCLNMV
QDPSQFDVLVMPNLYGDILSDLCAGLIGGLGVTPSGNIGANGVAIFESVHGTAPDIAGKDMANPTALLLSAVMMLRHMGL
FDHAARIEAACFATIKDGKSLTKDLGGNAKCSDFTEEICRRVKDLD*

Gene Symbol:IDH3A
Accession:XM_047432428
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIFDAAKAPIQWEERNVTAIQGPGGKWMIPSEAKESMDKNKMGLKGPLKTPIAAGHPSMNLLLRKTFDLYANVRPCVSI
EGYKTPYTDVNTVTIRENTEGEYSGIEHVIVDGVVQSIKLITEGASKRIAEFAFEYARNNHRSNVTAVHKANIMRMSDGL
FLQKCREVAESCKDIKFNEMYLDTVCLNMVQDPSQFDVLVMPNLYGDILSDLCAGLIGGLGVTPSGNIGANGVAIFESVH
GTAPDIAGKDMANPTALLLSAVMMLRHMGLFDHAARIEAACFATIKDGKSLTKDLGGNAKCSDFTEEICRRVKDLD*

Gene Symbol:IDH3A
Accession:XM_024449911
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 92
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIFDAAKAPIQWEERNVTAIQGPGGKWMIPSEAKESMDKNKMGLKGPLKTPIAAGHPSMNLLLRKTFDLYANVRPCVSI
EGYKTPYTDVNTVTIRENTEGEYSGIEHVIVDGVVQSIKLITEGASKRIAEFAFEYARNNHRSNVTAVHKANIMRMSDGL
FLQKCREVAESCKDIKFNEMYLDTVCLNMVQDPSQFDVLVMPNLYGDILSDLCAGLIGGLGVTPSGNIGANGVAIFESVH
GTAPDIAGKDMANPTALLLSAVMMLRHMGLFDHAARIEAACFATIKDGKSLTKDLGGNAKCSDFTEEICRRVKDLD*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002843004 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IDH3A CLINVAR
OMIM 601149 CLINVAR