Variant (rsID / SNP)
rs145611571
rs145611571 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAF1. Location: chromosome 3, position 12,660,099. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
RAF1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:12660099
- Cytoband
- 3p25.2
- HGVS
- NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)
- Allele change
- Silent
Associated conditions / phenotypes
Cardiovascular phenotype|RASopathy|Primary familial dilated cardiomyopathy|LEOPARD syndrome 2|Noonan syndrome 5|Noonan syndrome|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.