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.1858C>T r.(?) p.(Leu620Phe) - benign g.119156193C>T g.119285483C>T CBL(NM_005188.3):c.1858C>T (p.L620F) - CBL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1858C>T r.(?) p.(Leu620Phe) - likely benign g.119156193C>T g.119285483C>T CBL(NM_005188.3):c.1858C>T (p.L620F) - CBL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1858C>T r.(?) p.(Leu620Phe) - benign g.119156193C>T g.119285483C>T CBL(NM_005188.3):c.1858C>T (p.L620F) - CBL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1858C>T r.(?) p.(Leu620Phe) - likely benign g.119156193C>T g.119285483C>T - - CBL_000030 19 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2227988 Germline - 19/2794 individuals - 0 - Mohammed Faruq
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