Variant (rsID / SNP)

rs192632236

rs192632236 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RAF1. Location: chromosome 3, position 12,660,102. 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: 3:12660102
Cytoband: 3p25.2
HGVS: NM_002880.4(RAF1):c.119G>A (p.Arg40His)
Allele change: Silent

Associated conditions / phenotypes

RASopathy|LEOPARD syndrome 2|Noonan syndrome 5|Cardiovascular phenotype|Noonan syndrome 1

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.