RGD:8687786 Rat Genome Database

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Variant: RGD:8687786 -  Homo sapiens

RGD ID: 8687786
RS ID: rs142923780
ClinVar ID: CV138254
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IDH1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 209,116,182
GRCh38 2 208,251,458
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_610t1:c.94T>G
NM_001282386.1:c.94T>G
NM_001282387.1:c.94T>G
NG_023319.2:g.19617T>G
More... 		06/08/2017 missense variant likely benign|not provided AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:IDH1
Accession:NM_005896
Location:EXON
Amino Acid Prediction: F to V (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKKISGGSVVEMQGDEMTRIIWELIKEKLIVPYVELDLHSYDLGIENRDATNDQVTKDAAEAIKKHNVGVKCATITPDE
KRVEEFKLKQMWKSPNGTIRNILGGTVFREAIICKNIPRLVSGWVKPIIIGRHAYGDQYRATDFVVPGPGKVEITYTPSD
GTQKVTYLVHNFEEGGGVAMGMYNQDKSIEDFAHSSFQMALSKGWPLYLSTKNTILKKYDGRFKDIFQEIYDKQYKSQFE
AQKIWYEHRLIDDMVAQAMKSEGGFIWACKNYDGDVQSDSVAQGYGSLGMMTSVLVCPDGKTVEAEAAHGTVTRHYRMYQ
KGQETSTNPIASIFAWTRGLAHRAKLDNNKELAFFANALEEVSIETIEAGFMTKDLAACIKGLPNVQRSDYLNTFEFMDK
LGENLKIKLAQAKL*

Gene Symbol:IDH1
Accession:NM_001282386
Location:EXON
Amino Acid Prediction: F to V (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKKISGGSVVEMQGDEMTRIIWELIKEKLIVPYVELDLHSYDLGIENRDATNDQVTKDAAEAIKKHNVGVKCATITPDE
KRVEEFKLKQMWKSPNGTIRNILGGTVFREAIICKNIPRLVSGWVKPIIIGRHAYGDQYRATDFVVPGPGKVEITYTPSD
GTQKVTYLVHNFEEGGGVAMGMYNQDKSIEDFAHSSFQMALSKGWPLYLSTKNTILKKYDGRFKDIFQEIYDKQYKSQFE
AQKIWYEHRLIDDMVAQAMKSEGGFIWACKNYDGDVQSDSVAQGYGSLGMMTSVLVCPDGKTVEAEAAHGTVTRHYRMYQ
KGQETSTNPIASIFAWTRGLAHRAKLDNNKELAFFANALEEVSIETIEAGFMTKDLAACIKGLPNVQRSDYLNTFEFMDK
LGENLKIKLAQAKL*

Gene Symbol:IDH1
Accession:NM_001282387
Location:EXON
Amino Acid Prediction: F to V (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKKISGGSVVEMQGDEMTRIIWELIKEKLIVPYVELDLHSYDLGIENRDATNDQVTKDAAEAIKKHNVGVKCATITPDE
KRVEEFKLKQMWKSPNGTIRNILGGTVFREAIICKNIPRLVSGWVKPIIIGRHAYGDQYRATDFVVPGPGKVEITYTPSD
GTQKVTYLVHNFEEGGGVAMGMYNQDKSIEDFAHSSFQMALSKGWPLYLSTKNTILKKYDGRFKDIFQEIYDKQYKSQFE
AQKIWYEHRLIDDMVAQAMKSEGGFIWACKNYDGDVQSDSVAQGYGSLGMMTSVLVCPDGKTVEAEAAHGTVTRHYRMYQ
KGQETSTNPIASIFAWTRGLAHRAKLDNNKELAFFANALEEVSIETIEAGFMTKDLAACIKGLPNVQRSDYLNTFEFMDK
LGENLKIKLAQAKL*
Variant Samples
Additional References at PubMed
PMID:24728327   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000121202 CLINVAR
  RCV000963114 CLINVAR
  RCV003945077 CLINVAR
dbSNP (RS) rs142923780 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene IDH1 CLINVAR
OMIM 147700 CLINVAR