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Variant (rsID / SNP)

rs730881034

SOS1

rs730881034 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOS1. Location: chromosome 2, position 39,222,341. 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
2:39222341
Cytoband
2p22.1
HGVS
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu)
Allele change
Missense_P1090L

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.