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.2629G>A r.(?) p.(Ala877Thr) - likely pathogenic g.119170399G>A g.119299689G>A NM_005188.3:c.2629G>A; p.Ala877Thr - CBL_000084 - PubMed: Nair 2018 - rs1477997244 Unknown ? - - 0 - LOVD
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