RGD:11350099 Rat Genome Database

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Variant: RGD:11350099 -  Homo sapiens

RGD ID: 11350099
RS ID: rs878854755
ClinVar ID: CV241061
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBL  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 119,077,332
GRCh38 11 119,206,622
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_608t1:c.195+10C>A
LRG_608:g.5343C>A
NG_016808.1:g.5343C>A
NC_000011.10:g.119206622C>A
More... 		12/31/2019 intron variant likely benign 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 RCV000233252 CLINVAR
dbSNP (RS) rs878854755 CLINVAR
MedGen C5555857 CLINVAR
NCBI Gene CBL CLINVAR
OMIM 165360 CLINVAR