Variant (rsID / SNP)
rs121434594
rs121434594 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAF1. Location: chromosome 3, position 12,645,688. Clinical significance in the table: Pathogenic.
Reference-table entries
RAF1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:12645688
- Cytoband
- 3p25.2
- HGVS
- NM_002880.4(RAF1):c.781C>T (p.Pro261Ser)
- Allele change
- Silent
Associated conditions / phenotypes
Noonan syndrome 5|Noonan syndrome|Primary familial hypertrophic cardiomyopathy|RASopathy|Inborn genetic diseases|Cardiovascular phenotype|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.