RGD:155902172 Rat Genome Database

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Variant: RGD:155902172 -  Homo sapiens

RGD ID: 155902172
ClinVar ID: CV2043668
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NRAS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 115,252,215
GRCh38 1 114,709,594
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_92t1:c.425T>C
NM_002524.5:c.425T>C
LRG_92:g.12301T>C
NG_007572.1:g.12301T>C
More... 		04/28/2022 missense variant uncertain significance Noonan spectrum disorder; rasopathies
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2043668HumanRASopathy  IAGP 8554872ClinVar Annotator: match by term: RASopathyClinVarPMID:28492532
Gene Symbol:NRAS
Accession:NM_002524
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNSKSFADINLYREQIKRVKDSDDVPMVLVGNKCDLPTRTVDTKQAHELAKSYGIPFTETSAKTRQGVEDAFYTLV
REIRQYRMKKLNSSDDGTQGCMGLPCVVM*
.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002771045 CLINVAR
MedGen C5555857 CLINVAR
NCBI Gene NRAS CLINVAR
OMIM 164790 CLINVAR