Variant (rsID / SNP)

rs869320687

rs869320687 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOS2. Location: chromosome 14, position 50,628,269. Clinical significance in the table: Pathogenic.

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Reference-table entries

SOS2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:50628269
Cytoband: 14q21.3
HGVS: NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser)
Allele change: Missense_T376S

Associated conditions / phenotypes

Noonan syndrome 9|Noonan syndrome

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.