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Variant (rsID / SNP)

rs2229073

CBL

rs2229073 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBL. Location: chromosome 11, position 119,169,161. 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
11:119169161
Cytoband
11q23.3
HGVS
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu)
Allele change
Missense_P782L

Associated conditions / phenotypes

CBL-related disorder|RASopathy|Noonan syndrome and Noonan-related syndrome

Public references

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