Gene entry
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1
- Chromosome
- 2
- Cytoband
- 2p22.1
- Variants (rsID)
- 40
SOS1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p22.1). Its official name is “SOS Ras/Rac guanine nucleotide exchange factor 1”. The reference table lists 40 variants (rsID) for this gene.
Clinically classified variants
26 reference-table entries with clinical significance.
- rs1043793Benignsingle nucleotide variantFibromatosis, gingival, 1|Noonan syndrome 4
- rs139290271Benignsingle nucleotide variantRASopathy|Noonan syndrome|Noonan syndrome and Noonan-related syndrome
- rs141390073Benignsingle nucleotide variantNoonan syndrome|RASopathy|Fibromatosis, gingival, 1|Noonan syndrome 4|Noonan syndrome and Noonan-related syndrome
- rs143962515Benignsingle nucleotide variantFibromatosis, gingival, 1|Noonan syndrome 4|RASopathy|Noonan syndrome and Noonan-related syndrome
- rs183998234Benignsingle nucleotide variantFibromatosis, gingival, 1|Hypertrophic cardiomyopathy|RASopathy|Noonan syndrome 4
- rs201982464Benignsingle nucleotide variantNoonan syndrome|RASopathy|Fibromatosis, gingival, 1|Noonan syndrome 4|Noonan syndrome and Noonan-related syndrome
- rs55980502Benignsingle nucleotide variantNoonan syndrome 4|Fibromatosis, gingival, 1|RASopathy|Noonan syndrome and Noonan-related syndrome
- rs56219475Benignsingle nucleotide variantRASopathy|Arrhythmogenic right ventricular cardiomyopathy|Noonan syndrome 4|Noonan syndrome and Noonan-related syndrome
- rs79270739Benignsingle nucleotide variantNoonan syndrome 4|Fibromatosis, gingival, 1
- rs8192671Benignsingle nucleotide variantRASopathy|Noonan syndrome|Noonan syndrome 4|Fibromatosis, gingival, 1|Noonan syndrome and Noonan-related syndrome
- rs142094234Conflicting interpretationssingle nucleotide variantNoonan syndrome and Noonan-related syndrome|RASopathy
- rs202043599Conflicting interpretationssingle nucleotide variantRASopathy|Fibromatosis, gingival, 1|Noonan syndrome 4
- rs397517177Conflicting interpretationssingle nucleotide variantRASopathy
- rs587781172Conflicting interpretationssingle nucleotide variantNoonan syndrome|Gingival fibromatosis
- rs727505093Conflicting interpretationssingle nucleotide variantNoonan syndrome|RASopathy
- rs730881026Conflicting interpretationssingle nucleotide variantRASopathy|Noonan syndrome and Noonan-related syndrome
- rs730881034Conflicting interpretationssingle nucleotide variantRASopathy|Fibromatosis, gingival, 1|Noonan syndrome 4
- rs141594736Likely benignsingle nucleotide variantRASopathy|Noonan syndrome and Noonan-related syndrome
- rs763337946Likely benignsingle nucleotide variantRASopathy|Noonan syndrome and Noonan-related syndrome
- rs137852812Pathogenicsingle nucleotide variantNoonan syndrome 4|Noonan syndrome|RASopathy|Noonan syndrome 4|Fibromatosis, gingival, 1
- rs137852813Pathogenicsingle nucleotide variantNoonan syndrome 4|Noonan syndrome|RASopathy|Noonan syndrome 1
- rs137852814Pathogenicsingle nucleotide variantNoonan syndrome 4|Noonan syndrome|RASopathy|Noonan syndrome 4|Fibromatosis, gingival, 1
- rs267607079Pathogenicsingle nucleotide variantNoonan syndrome 4|Noonan syndrome|RASopathy|Noonan syndrome 4|Fibromatosis, gingival, 1|Noonan syndrome and Noonan-related syndrome|Noonan syndrome 1
- rs267607080Pathogenicsingle nucleotide variantNoonan syndrome 4|Noonan syndrome|RASopathy
- rs397517146Pathogenicsingle nucleotide variantNoonan syndrome|RASopathy
- rs397517168Uncertain significancesingle nucleotide variantPrimary familial hypertrophic cardiomyopathy|RASopathy
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
