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Variant (rsID / SNP)

rs886057915

RAF1

rs886057915 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAF1. Location: chromosome 3, position 12,660,200. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

RAF1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:12660200
Cytoband
3p25.2
HGVS
NM_002880.4(RAF1):c.21T>C (p.Ala7=)
Allele change
Silent

Associated conditions / phenotypes

Noonan syndrome 5|LEOPARD syndrome 2|RASopathy

Public references

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