Variant (rsID / SNP)

rs201631570

rs201631570 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBL. Location: chromosome 11, position 119,170,339. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CBLBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:119170339
Cytoband: 11q23.3
HGVS: NM_005188.4(CBL):c.2569C>T (p.Leu857Phe)
Allele change: Missense_L857F

Associated conditions / phenotypes

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

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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