RGD:40813875 Rat Genome Database

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Variant: RGD:40813875 -  Homo sapiens

RGD ID: 40813875
ClinVar ID: CV969621
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NRAS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 115,252,197
GRCh38 1 114,709,576
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007572.1:g.12319C>T
NC_000001.11:g.114709576G>A
NC_000001.10:g.115252197G>A
LRG_92t1:c.443C>T
More...
missense variant likely benign Noonan's syndrome; Pseudo-Turner syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NRAS
Accession:NM_002524
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 148
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC
VFAINNSKSFADINLYREQIKRVKDSDDVPMVLVGNKCDLPTRTVDTKQAHELAKSYGIPFIETSAKIRQGVEDAFYTLV
REIRQYRMKKLNSSDDGTQGCMGLPCVVM*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001261091 CLINVAR
MedGen C0028326 CLINVAR
NCBI Gene NRAS CLINVAR
OMIM 164790 CLINVAR
SNOMED CT 205824006 CLINVAR