RGD:10406758 Rat Genome Database

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Variant: RGD:10406758 -  Homo sapiens

RGD ID: 10406758
RS ID: rs797045795
ClinVar ID: CV206711
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NRAS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 115,252,323
GRCh38 1 114,709,702
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_92:g.12193C>T
NG_007572.1:g.12193C>T
NC_000001.11:g.114709702G>A
NC_000001.10:g.115252323G>A
More... 		10/14/2016 missense variant uncertain significance|not provided AllHighlyPenetrant; none provided; NRAS gene related Noonan syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NRAS
Accession:NM_002524
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNSKSFADINLYREQIKRVKDLDDVPMVLVGNKCDLPTRTVDTKQAHELAKSYGIPFIETSAKTRQGVEDAFYTLV
REIRQYRMKKLNSSDDGTQGCMGLPCVVM*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000194018 CLINVAR
  RCV000709916 CLINVAR
  RCV002468937 CLINVAR
dbSNP (RS) rs797045795 CLINVAR
MedGen C2750732 CLINVAR
  CN169374 CLINVAR
  CN517202 CLINVAR
NCBI Gene NRAS CLINVAR
OMIM 164790 CLINVAR
  613224 CLINVAR