Variant (rsID / SNP)
rs267606704
rs267606704 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CBL. Location: chromosome 11, position 119,148,880. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
CBLPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:119148880
- Cytoband
- 11q23.3
- HGVS
- NM_005188.4(CBL):c.1100A>C (p.Gln367Pro)
- Allele change
- Missense_Q367P
Associated conditions / phenotypes
Fragile site 11b|CBL-related disorder|RASopathy|Inborn genetic diseases|CBL-related disorder|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.