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Variant (rsID / SNP)

rs202043599

SOS1

rs202043599 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOS1. Location: chromosome 2, position 39,224,178. 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
2:39224178
Cytoband
2p22.1
HGVS
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys)
Allele change
Missense_R989K

Associated conditions / phenotypes

RASopathy|Fibromatosis, gingival, 1|Noonan syndrome 4

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.