Variant (rsID / SNP)
rs141791080
rs141791080 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAF1. Location: chromosome 3, position 12,626,130. Clinical significance in the table: Benign.
Reference-table entries
RAF1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:12626130
- Cytoband
- 3p25.2
- HGVS
- NM_002880.4(RAF1):c.1830A>G (p.Gln610=)
- Allele change
- Silent
Associated conditions / phenotypes
RASopathy|Cardiovascular phenotype|Noonan syndrome 5|LEOPARD syndrome 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.