RGD:28899193 Rat Genome Database

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Variant: RGD:28899193 -  Homo sapiens

RGD ID: 28899193
RS ID: rs1023495416
ClinVar ID: CV867163
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBL  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 119,174,113
GRCh38 11 119,303,403
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.*3622T>C
LRG_608t1:c.*3622T>C
LRG_608:g.102124T>C
NC_000011.9:g.119174113T>C
More... 		01/12/2018 3 prime utr variant uncertain significance CBL MUTATION-ASSOCIATED SYNDROME; CBL SYNDROME; 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 RCV001103282 CLINVAR
dbSNP (RS) rs1023495416 CLINVAR
MedGen C3150803 CLINVAR
NCBI Gene CBL CLINVAR
OMIM 165360 CLINVAR
  613563 CLINVAR