RGD:28909904 Rat Genome Database

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Variant: RGD:28909904 -  Homo sapiens

RGD ID: 28909904
RS ID: rs1489248573
ClinVar ID: CV867193
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 119,178,092
GRCh38 11 119,307,382
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_608t1:c.*7601G>A
NM_005188.4:c.*7601G>A
LRG_608:g.106103G>A
NG_016808.1:g.106103G>A
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 RCV001108702 CLINVAR
dbSNP (RS) rs1489248573 CLINVAR
MedGen C3150803 CLINVAR
NCBI Gene CBL CLINVAR
OMIM 165360 CLINVAR
  613563 CLINVAR