All variants in the CBL gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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.2269G>A r.(?) p.(Ala757Thr) - benign g.119169085G>A g.119298375G>A CBL(NM_005188.3):c.2269G>A (p.A757T, p.(Ala757Thr)) - CBL_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.2269G>A r.(?) p.(Ala757Thr) - likely benign g.119169085G>A g.119298375G>A CBL(NM_005188.3):c.2269G>A (p.A757T, p.(Ala757Thr)) - CBL_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.2269G>A r.(?) p.(Ala757Thr) - likely benign g.119169085G>A g.119298375G>A CBL(NM_005188.3):c.2269G>A (p.A757T, p.(Ala757Thr)) - CBL_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.2269G>A r.(?) p.(Ala757Thr) - likely benign g.119169085G>A g.119298375G>A CBL(NM_005188.3):c.2269G>A (p.A757T, p.(Ala757Thr)) - CBL_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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