Variant (rsID / SNP)
rs267606706
rs267606706 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBL. Location: chromosome 11, position 119,148,891. Clinical significance in the table: Pathogenic.
Reference-table entries
CBLPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:119148891
- Cytoband
- 11q23.3
- HGVS
- NM_005188.4(CBL):c.1111T>C (p.Tyr371His)
- Allele change
- Missense_Y371H
Associated conditions / phenotypes
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia|Hematologic neoplasm|RASopathy|Juvenile myelomonocytic leukemia|CBL-related disorder|See cases
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.