Variant (rsID / SNP)

rs730881026

rs730881026 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOS1. Location: chromosome 2, position 39,213,238. 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: 2:39213238
Cytoband: 2p22.1
HGVS: NM_005633.4(SOS1):c.3729C>G (p.Asp1243Glu)
Allele change: Missense_D1243E

Associated conditions / phenotypes

RASopathy|Noonan syndrome and Noonan-related syndrome

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.