Variant (rsID / SNP)

rs397516815

rs397516815 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAF1. Location: chromosome 3, position 12,627,259. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

RAF1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:12627259
Cytoband: 3p25.2
HGVS: NM_002880.4(RAF1):c.1457A>G (p.Asp486Gly)
Allele change: Silent

Associated conditions / phenotypes

Noonan syndrome|RASopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.