RGD:11603307 Rat Genome Database

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Variant: RGD:11603307 -  Homo sapiens

RGD ID: 11603307
RS ID: rs112984401
ClinVar ID: CV318609
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 119,173,645
GRCh38 11 119,302,935
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_608t1:c.*3154C>T
LRG_608:g.101656C>T
NG_016808.1:g.101656C>T
NC_000011.10:g.119302935C>T
More... 		01/13/2018 3 prime utr variant benign|likely benign 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 RCV000298641 CLINVAR
  RCV003422238 CLINVAR
dbSNP (RS) rs112984401 CLINVAR
MedGen C3150803 CLINVAR
  C3661900 CLINVAR
NCBI Gene CBL CLINVAR
OMIM 165360 CLINVAR
  613563 CLINVAR