Variant (rsID / SNP)

rs267607080

rs267607080 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOS1. Location: chromosome 2, position 39,250,275. Clinical significance in the table: Pathogenic.

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Reference-table entries

SOS1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:39250275
Cytoband: 2p22.1
HGVS: NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg)
Allele change: Missense_W432R

Associated conditions / phenotypes

Noonan syndrome 4|Noonan syndrome|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.