Variant (rsID / SNP)

rs184022679

rs184022679 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAF1. Location: chromosome 3, position 12,653,557. Clinical significance in the table: Benign.

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Reference-table entries

RAF1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:12653557
Cytoband: 3p25.2
HGVS: NM_002880.4(RAF1):c.212A>G (p.Asn71Ser)
Allele change: Silent

Associated conditions / phenotypes

RASopathy|Cardiovascular phenotype

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.