Variant (rsID / SNP)
rs80338797
rs80338797 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAF1. Location: chromosome 3, position 12,626,123. Clinical significance in the table: Pathogenic.
Reference-table entries
RAF1Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:12626123
- Cytoband
- 3p25.2
- HGVS
- NM_002880.4(RAF1):c.1837C>G (p.Leu613Val)
- Allele change
- Silent
Associated conditions / phenotypes
Noonan syndrome 5|LEOPARD syndrome 2|Noonan syndrome with multiple lentigines|RASopathy|Noonan syndrome|Noonan syndrome|Noonan syndrome with multiple lentigines|Hypertrophic cardiomyopathy 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.