rs572880679

This variant is located in the SOS1 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

Fibromatosis, gingival, 1; Noonan syndrome 4; Fibromatosis, gingival, 1;Noonan syndrome 4

About SOS1

This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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