Variant (rsID / SNP)

rs587781172

rs587781172 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOS1. Location: chromosome 2, position 39,241,082. 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: 2:39241082
Cytoband: 2p22.1
HGVS: NM_005633.4(SOS1):c.1989A>C (p.Ile663=)
Allele change: Synonymous_I663I

Associated conditions / phenotypes

Noonan syndrome|Gingival fibromatosis

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.