Variant (rsID / SNP)

rs150550899

rs150550899 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBL. Location: chromosome 11, position 119,156,206. Clinical significance in the table: Likely benign.

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Reference-table entries

CBLLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:119156206
Cytoband: 11q23.3
HGVS: NM_005188.4(CBL):c.1871T>C (p.Leu624Ser)
Allele change: Missense_L624S

Associated conditions / phenotypes

RASopathy

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.