Variant (rsID / SNP)
rs267607079
rs267607079 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOS1. Location: chromosome 2, position 39,249,913. Clinical significance in the table: Pathogenic.
Reference-table entries
SOS1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:39249913
- Cytoband
- 2p22.1
- HGVS
- NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser)
- Allele change
- Missense_R552S
Associated conditions / phenotypes
Noonan syndrome 4|Noonan syndrome|RASopathy|Noonan syndrome 4|Fibromatosis, gingival, 1|Noonan syndrome and Noonan-related syndrome|Noonan syndrome 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.