RGD:11625028 Rat Genome Database

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Variant: RGD:11625028 -  Homo sapiens

RGD ID: 11625028
RS ID: rs569180524
ClinVar ID: CV325659
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBL  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 119,177,066
GRCh38 11 119,306,356
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_608t1:c.*6575G>C
LRG_608:g.105077G>C
NG_016808.1:g.105077G>C
NC_000011.10:g.119306356G>C
More... 		12/01/2022 3 prime utr variant likely benign|uncertain significance CBL MUTATION-ASSOCIATED SYNDROME; CBL SYNDROME; none provided; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; NOONAN SYNDROME-LIKE DISORDER WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CBL
Accession:NM_005188
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000393915 CLINVAR
  RCV003422240 CLINVAR
dbSNP (RS) rs569180524 CLINVAR
MedGen C3150803 CLINVAR
  C3661900 CLINVAR
NCBI Gene CBL CLINVAR
OMIM 165360 CLINVAR
  613563 CLINVAR