Variant (rsID / SNP)

rs397517177

rs397517177 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOS1. Location: chromosome 2, position 39,281,787. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SOS1Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 2:39281787
Cytoband: 2p22.1
HGVS: NM_005633.4(SOS1):c.688T>G (p.Phe230Val)
Allele change: Missense_F230V

Associated conditions / phenotypes

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.