Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

RAF1

Raf-1 proto-oncogene, serine/threonine kinase

Chromosome
3
Cytoband
3p25.2
Variants (rsID)
28

RAF1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p25.2). Its official name is “Raf-1 proto-oncogene, serine/threonine kinase”. The reference table lists 28 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

22 reference-table entries with clinical significance.

  • rs116247741Benignsingle nucleotide variantNoonan syndrome 5|LEOPARD syndrome 2|RASopathy
  • rs141791080Benignsingle nucleotide variantRASopathy|Cardiovascular phenotype|Noonan syndrome 5|LEOPARD syndrome 2
  • rs184022679Benignsingle nucleotide variantRASopathy|Cardiovascular phenotype
  • rs192632236Benignsingle nucleotide variantRASopathy|LEOPARD syndrome 2|Noonan syndrome 5|Cardiovascular phenotype|Noonan syndrome 1
  • rs2290159Benignsingle nucleotide variant
  • rs2290161Benignsingle nucleotide variant
  • rs372738063Benignsingle nucleotide variantRASopathy|Noonan syndrome and Noonan-related syndrome
  • rs3729931Benignsingle nucleotide variant
  • rs5746244Benignsingle nucleotide variantRASopathy|Noonan syndrome 5|LEOPARD syndrome 2|Noonan syndrome and Noonan-related syndrome
  • rs771344560Benignsingle nucleotide variantRASopathy
  • rs145611571Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|RASopathy|Primary familial dilated cardiomyopathy|LEOPARD syndrome 2|Noonan syndrome 5|Noonan syndrome|Noonan syndrome and Noonan-related syndrome
  • rs886057915Conflicting interpretationssingle nucleotide variantNoonan syndrome 5|LEOPARD syndrome 2|RASopathy
  • rs146668293Likely benignsingle nucleotide variantCardiovascular phenotype|RASopathy
  • rs371846795Likely benignsingle nucleotide variantLEOPARD syndrome 2|Noonan syndrome 5|RASopathy
  • rs397516824Likely benignsingle nucleotide variantRASopathy
  • rs5746219Likely benignsingle nucleotide variantRASopathy|Noonan syndrome 5|LEOPARD syndrome 2|Noonan syndrome and Noonan-related syndrome
  • rs727505017Likely pathogenicsingle nucleotide variantNoonan syndrome|Primary familial hypertrophic cardiomyopathy|Melanoma|RASopathy
  • rs121434594Pathogenicsingle nucleotide variantNoonan syndrome 5|Noonan syndrome|Primary familial hypertrophic cardiomyopathy|RASopathy|Inborn genetic diseases|Cardiovascular phenotype|Noonan syndrome and Noonan-related syndrome
  • rs397516815Pathogenicsingle nucleotide variantNoonan syndrome|RASopathy
  • rs80338796Pathogenicsingle nucleotide variantNoonan syndrome 5|LEOPARD syndrome 2|Noonan syndrome with multiple lentigines|RASopathy|Noonan syndrome|Lung adenocarcinoma|Malignant melanoma of skin|Neoplasm of the large intestine|Gastric adenocarcinoma|Dilated cardiomyopathy 1NN|LEOPARD syndrome 2|Noonan syndrome 5|Inborn genetic diseases|Noonan syndrome|Noonan syndrome with multiple lentigines|Noonan syndrome 1|RAF1-related disorders|Noonan syndrome and Noonan-related syndrome
  • rs80338797Pathogenicsingle nucleotide variantNoonan syndrome 5|LEOPARD syndrome 2|Noonan syndrome with multiple lentigines|RASopathy|Noonan syndrome|Noonan syndrome|Noonan syndrome with multiple lentigines|Hypertrophic cardiomyopathy 1
  • rs370243307Uncertain significancesingle nucleotide variantCardiovascular phenotype|RASopathy|Hypertrophic cardiomyopathy 1

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.