RGD:155677983 Rat Genome Database

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Variant: RGD:155677983 -  Homo sapiens

RGD ID: 155677983
ClinVar ID: CV1826275
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDH1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 209,113,373
GRCh38 2 208,248,649
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_610t1:c.134G>A
LRG_610t2:c.134G>A
LRG_610t3:c.134G>A
NM_001282386.1:c.134G>A
More... 		02/05/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IDH1
Accession:NM_005896
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKKISGGSVVEMQGDEMTRIIWELIKEKLIFPYVELDLHSYDLDIENRDATNDQVTKDAAEAIKKHNVGVKCATITPDE
KRVEEFKLKQMWKSPNGTIRNILGGTVFREAIICKNIPRLVSGWVKPIIIGRHAYGDQYRATDFVVPGPGKVEITYTPSD
GTQKVTYLVHNFEEGGGVAMGMYNQDKSIEDFAHSSFQMALSKGWPLYLSTKNTILKKYDGRFKDIFQEIYDKQYKSQFE
AQKIWYEHRLIDDMVAQAMKSEGGFIWACKNYDGDVQSDSVAQGYGSLGMMTSVLVCPDGKTVEAEAAHGTVTRHYRMYQ
KGQETSTNPIASIFAWTRGLAHRAKLDNNKELAFFANALEEVSIETIEAGFMTKDLAACIKGLPNVQRSDYLNTFEFMDK
LGENLKIKLAQAKL*

Gene Symbol:IDH1
Accession:NM_001282386
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKKISGGSVVEMQGDEMTRIIWELIKEKLIFPYVELDLHSYDLDIENRDATNDQVTKDAAEAIKKHNVGVKCATITPDE
KRVEEFKLKQMWKSPNGTIRNILGGTVFREAIICKNIPRLVSGWVKPIIIGRHAYGDQYRATDFVVPGPGKVEITYTPSD
GTQKVTYLVHNFEEGGGVAMGMYNQDKSIEDFAHSSFQMALSKGWPLYLSTKNTILKKYDGRFKDIFQEIYDKQYKSQFE
AQKIWYEHRLIDDMVAQAMKSEGGFIWACKNYDGDVQSDSVAQGYGSLGMMTSVLVCPDGKTVEAEAAHGTVTRHYRMYQ
KGQETSTNPIASIFAWTRGLAHRAKLDNNKELAFFANALEEVSIETIEAGFMTKDLAACIKGLPNVQRSDYLNTFEFMDK
LGENLKIKLAQAKL*

Gene Symbol:IDH1
Accession:NM_001282387
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKKISGGSVVEMQGDEMTRIIWELIKEKLIFPYVELDLHSYDLDIENRDATNDQVTKDAAEAIKKHNVGVKCATITPDE
KRVEEFKLKQMWKSPNGTIRNILGGTVFREAIICKNIPRLVSGWVKPIIIGRHAYGDQYRATDFVVPGPGKVEITYTPSD
GTQKVTYLVHNFEEGGGVAMGMYNQDKSIEDFAHSSFQMALSKGWPLYLSTKNTILKKYDGRFKDIFQEIYDKQYKSQFE
AQKIWYEHRLIDDMVAQAMKSEGGFIWACKNYDGDVQSDSVAQGYGSLGMMTSVLVCPDGKTVEAEAAHGTVTRHYRMYQ
KGQETSTNPIASIFAWTRGLAHRAKLDNNKELAFFANALEEVSIETIEAGFMTKDLAACIKGLPNVQRSDYLNTFEFMDK
LGENLKIKLAQAKL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002387921 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene IDH1 CLINVAR
OMIM 147700 CLINVAR