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Variant (rsID / SNP)

rs146250423

CBL

rs146250423 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBL. Location: chromosome 11, position 119,170,358. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CBLConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:119170358
Cytoband
11q23.3
HGVS
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser)
Allele change
Missense_N863S

Associated conditions / phenotypes

RASopathy|CBL-related disorder

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.