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Variant (rsID / SNP)

rs267606708

CBL

rs267606708 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBL. Location: chromosome 11, position 119,149,251. 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
11:119149251
Cytoband
11q23.3
HGVS
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln)
Allele change
Missense_R420Q

Associated conditions / phenotypes

CBL-related disorder|Fragile site 11b|RASopathy|CBL-related disorder|Rhabdomyosarcoma

Public references

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