Variant (rsID / SNP)

rs137852813

rs137852813 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOS1. Location: chromosome 2, position 39,278,343. 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: 2:39278343
Cytoband: 2p22.1
HGVS: NM_005633.4(SOS1):c.806T>G (p.Met269Arg)
Allele change: Missense_M269R

Associated conditions / phenotypes

Noonan syndrome 4|Noonan syndrome|RASopathy|Noonan syndrome 1

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.