RGD:26914924 Rat Genome Database

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Variant: RGD:26914924 -  Homo sapiens

RGD ID: 26914924
RS ID: rs754477196
ClinVar ID: CV851824
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBL  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 119,149,210
GRCh38 11 119,278,500
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_608t1:c.1228-10T>G
NM_005188.4:c.1228-10T>G
LRG_608:g.77221T>G
NG_016808.1:g.77221T>G
More... 		10/18/2022 intron variant likely benign|uncertain significance Noonan spectrum disorder; rasopathies
Disease Annotations     Click to see Annotation Detail View
RASopathy  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:CBL
Accession:NM_005188
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001055321 CLINVAR
dbSNP (RS) rs754477196 CLINVAR
MedGen C5555857 CLINVAR
NCBI Gene CBL CLINVAR
OMIM 165360 CLINVAR