Variant (rsID / SNP)
rs80338796
rs80338796 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAF1. Location: chromosome 3, position 12,645,699. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:12645699
- Cytoband
- 3p25.2
- HGVS
- NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)
- Allele change
- Silent
Associated conditions / phenotypes
Noonan 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
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.