Variant (rsID / SNP)

rs1043793

rs1043793 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOS1. Location: chromosome 2, position 39,209,047. Clinical significance in the table: Benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SOS1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:39209047
Cytoband: 2p22.1
HGVS: NM_005633.4(SOS1):c.*3918T>C
Allele change: Silent

Associated conditions / phenotypes

Fibromatosis, gingival, 1|Noonan syndrome 4

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.