Variant (rsID / SNP)

rs5746219

rs5746219 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAF1. Location: chromosome 3, position 12,641,732. Clinical significance in the table: Likely benign.

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Reference-table entries

RAF1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:12641732
Cytoband: 3p25.2
HGVS: NM_002880.4(RAF1):c.909A>C (p.Thr303=)
Allele change: Silent

Associated conditions / phenotypes

RASopathy|Noonan syndrome 5|LEOPARD syndrome 2|Noonan syndrome and Noonan-related syndrome

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.