present in Gene: CBL
present in Chromosome: 11
Position on Chromosome: 119278165
Alleles of this Variant: G/C;T
rs397517076 in
CBL gene and
Dysmorphic features
PMID 28589114 2017 Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm.
PMID 20694012 2010 Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.
PMID 25952305 2015 Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
PMID 20619386 2010 Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
PMID 22266821 2012 Structural basis for autoinhibition and phosphorylation-dependent activation of c-Cbl.
PMID 26152360 2015 Deleterious c-Cbl Exon Skipping Contributes to Human Glioma.
PMID 20543203 2010 Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.
rs397517076 in
CBL gene and
Movement Disorders
PMID 28589114 2017 Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm.
PMID 26152360 2015 Deleterious c-Cbl Exon Skipping Contributes to Human Glioma.
PMID 25952305 2015 Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
PMID 20619386 2010 Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
PMID 20543203 2010 Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.
PMID 22266821 2012 Structural basis for autoinhibition and phosphorylation-dependent activation of c-Cbl.
PMID 20694012 2010 Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.
rs397517076 in
CBL gene and
Noonan Syndrome
PMID 19571318 2009 Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.
PMID 25358541 2015 Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.
PMID 20595524 2010 Long-term survival after nonintensive chemotherapy in some juvenile myelomonocytic leukemia patients with CBL mutations, and the possible presence of healthy persons with the mutations.
PMID 25952305 2015 Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
PMID 20694012 2010 Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.
PMID 23823657 2013 In hematopoietic cells with a germline mutation of CBL, loss of heterozygosity is not a signature of juvenile myelo-monocytic leukemia.