Variant (rsID / SNP)

rs146668293

rs146668293 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAF1. Location: chromosome 3, position 12,633,287. 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: 3:12633287
Cytoband: 3p25.2
HGVS: NM_002880.4(RAF1):c.1113T>C (p.Asp371=)
Allele change: Silent

Associated conditions / phenotypes

Cardiovascular phenotype|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.