Variant (rsID / SNP)

rs137961578

rs137961578 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOS2. Location: chromosome 14, position 50,655,380. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SOS2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:50655380
Cytoband: 14q21.3
HGVS: NM_006939.4(SOS2):c.549G>C (p.Leu183Phe)
Allele change: Missense_L183F

Associated conditions / phenotypes

Noonan syndrome 9|Noonan syndrome|Noonan syndrome and Noonan-related 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.