rs766657715 Rat Genome Database

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Variant: rs766657715 -  Homo sapiens

RGD ID: 126922657
RS ID: rs766657715
ClinVar ID: CV1049115
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDH3A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 78,453,998
GRCh38 15 78,161,656
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.365C>T
NC_000015.10:g.78161656C>T
NC_000015.9:g.78453998C>T
NP_005521.1:p.Ala122Val
 09/26/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:IDH3A
Accession:XM_047432428
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIFDAAKAPIQWEERNVTAIQGPGGKWMIPSEAKESMDKNKMGLKGPLKTPIAAGHPSMNLLLRKTFDLYVNVRPCVSI
EGYKTPYTDVNIVTIRENTEGEYSGIEHVIVDGVVQSIKLITEGASKRIAEFAFEYARNNHRSNVTAVHKANIMRMSDGL
FLQKCREVAESCKDIKFNEMYLDTVCLNMVQDPSQFDVLVMPNLYGDILSDLCAGLIGGLGVTPSGNIGANGVAIFESVH
GTAPDIAGKDMANPTALLLSAVMMLRHMGLFDHAARIEAACFATIKDGKSLTKDLGGNAKCSDFTEEICRRVKDLD*

Gene Symbol:IDH3A
Accession:NM_005530
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGPAWISKVSRLLGAFHNPKQVTRGFTGGVQTVTLIPGDGIGPEISAAVMKIFDAAKAPIQWEERNVTAIQGPGGKWMI
PSEAKESMDKNKMGLKGPLKTPIAAGHPSMNLLLRKTFDLYVNVRPCVSIEGYKTPYTDVNIVTIRENTEGEYSGIEHVI
VDGVVQSIKLITEGASKRIAEFAFEYARNNHRSNVTAVHKANIMRMSDGLFLQKCREVAESCKDIKFNEMYLDTVCLNMV
QDPSQFDVLVMPNLYGDILSDLCAGLIGGLGVTPSGNIGANGVAIFESVHGTAPDIAGKDMANPTALLLSAVMMLRHMGL
FDHAARIEAACFATIKDGKSLTKDLGGNAKCSDFTEEICRRVKDLD*

Gene Symbol:IDH3A
Accession:XM_047432429
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIFDAAKAPIQWEERNVTAIQGPGGKWMIPSEAKESMDKNKMGLKGPLKTPIAAGHPSMNLLLRKTFDLYVNVRPCVSI
EGYKTPYTDVNIVTIRENTEGEYSGIEHVIVDGVVQSIKLITEGASKRIAEFAFEYARNNHRSNVTAVHKANIMRMSDGL
FLQKCREVAESCKDIKFNEMYLDTVCLNMVQDPSQFDVLVMPNLYGDILSDLCAGLIGGLGVTPSGNIGANGVAIFESVH
GTAPDIAGKDMANPTALLLSAVMMLRHMGLFDHAARIEAACFATIKDGKSLTKDLGGNAKCSDFTEEICRRVKDLD*

Gene Symbol:IDH3A
Accession:XM_024449911
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKIFDAAKAPIQWEERNVTAIQGPGGKWMIPSEAKESMDKNKMGLKGPLKTPIAAGHPSMNLLLRKTFDLYVNVRPCVSI
EGYKTPYTDVNIVTIRENTEGEYSGIEHVIVDGVVQSIKLITEGASKRIAEFAFEYARNNHRSNVTAVHKANIMRMSDGL
FLQKCREVAESCKDIKFNEMYLDTVCLNMVQDPSQFDVLVMPNLYGDILSDLCAGLIGGLGVTPSGNIGANGVAIFESVH
GTAPDIAGKDMANPTALLLSAVMMLRHMGLFDHAARIEAACFATIKDGKSLTKDLGGNAKCSDFTEEICRRVKDLD*

Gene Symbol:IDH3A
Accession:XM_047432430
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNLLLRKTFDLYVNVRPCVSIEGYKTPYTDVNIVTIRENTEGEYSGIEHVIVDGVVQSIKLITEGASKRIAEFAFEYARN
NHRSNVTAVHKANIMRMSDGLFLQKCREVAESCKDIKFNEMYLDTVCLNMVQDPSQFDVLVMPNLYGDILSDLCAGLIGG
LGVTPSGNIGANGVAIFESVHGTAPDIAGKDMANPTALLLSAVMMLRHMGLFDHAARIEAACFATIKDGKSLTKDLGGNA
KCSDFTEEICRRVKDLD*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001364927 CLINVAR
dbSNP (RS) rs766657715 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IDH3A CLINVAR
OMIM 601149 CLINVAR