RGD:401870639 Rat Genome Database

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Variant: RGD:401870639 -  Homo sapiens

RGD ID: 401870639
ClinVar ID: CV2755983
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DIRAS3  GNG12-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 68,512,468
GRCh38 1 68,046,785
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1034t1:c.513G>A
NM_004675.5:c.513G>A
NC_000001.11:g.68046785C>T
NC_000001.10:g.68512468C>T
More... 		06/27/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:DIRAS3
Accession:NM_004675
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNASFGSKEQKLLKRLRLLPALLILRAFKPHRKIRDYRVVVVGTAGVGKSTLLHKWASGNFRHEYLPTIENTYCQLLGC
SHGVLSLHITDSKSGDGNRALQRHVIARGHAFVLVYSVTKKETLEELKAFYELICKIKGNNLHKFPIVLVGNKSDDTHRE
VALNDGATCAIEWNCAFMEISAKTDVNVQELFHMLLNYKKKPTTGLQEPEKKSQMPNTTEKLLDKCIIM*

Gene Symbol:GNG12-AS1
Accession:NR_040077
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004336066 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene DIRAS3 CLINVAR
  GNG12-AS1 CLINVAR
OMIM 605193 CLINVAR
  615406 CLINVAR