RGD:28899428 Rat Genome Database

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Variant: RGD:28899428 -  Homo sapiens

RGD ID: 28899428
RS ID: rs985019007
ClinVar ID: CV867174
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 119,175,627
GRCh38 11 119,304,917
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.*5136G>A
LRG_608:g.103638G>A
NG_016808.1:g.103638G>A
NC_000011.10:g.119304917G>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 RCV001103377 CLINVAR
dbSNP (RS) rs985019007 CLINVAR
MedGen C3150803 CLINVAR
NCBI Gene CBL CLINVAR
OMIM 165360 CLINVAR
  613563 CLINVAR