Variant (rsID / SNP)

rs2227988

rs2227988 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBL. Location: chromosome 11, position 119,156,193. Clinical significance in the table: Benign.

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Reference-table entries

CBLBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:119156193
Cytoband: 11q23.3
HGVS: NM_005188.4(CBL):c.1858C>T (p.Leu620Phe)
Allele change: Missense_L620F

Associated conditions / phenotypes

RASopathy|CBL-related disorder|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.