Variant (rsID / SNP)

rs397517168

rs397517168 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOS1. Location: chromosome 2, position 39,213,264. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SOS1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:39213264
Cytoband: 2p22.1
HGVS: NM_005633.4(SOS1):c.3703C>T (p.Pro1235Ser)
Allele change: Missense_P1235S

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|RASopathy

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.