RGD:15140021 Rat Genome Database

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Variant: RGD:15140021 -  Homo sapiens

RGD ID: 15140021
RS ID: rs371919794
ClinVar ID: CV690000
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 119,155,673
GRCh38 11 119,284,963
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005188.4:c.1432-6C>T
NG_016808.1:g.83684C>T
NC_000011.10:g.119284963C>T
NC_000011.9:g.119155673C>T
More... 		04/15/2021 intron variant benign|likely benign AllHighlyPenetrant; 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:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000865104 CLINVAR
  RCV001375586 CLINVAR
dbSNP (RS) rs371919794 CLINVAR
MedGen C5555857 CLINVAR
  CN169374 CLINVAR
NCBI Gene CBL CLINVAR
OMIM 165360 CLINVAR