Variant (rsID / SNP)

rs397517146

rs397517146 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOS1. Location: chromosome 2, position 39,251,221. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SOS1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:39251221
Cytoband: 2p22.1
HGVS: NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala)
Allele change: Missense_T378A

Associated conditions / phenotypes

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.