All variants in the CBL gene

Information The variants shown are described using the NM_005188.3 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/? ? c.1144A>G r.(?) p.(Lys382Glu) - likely pathogenic g.119148924A>G g.119278214A>G Lys382Glu - CBL_000002 - PubMed: Martinelli 2010 - - Unknown - - - 0 - LOVD
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