Variant (rsID / SNP)

rs200361128

rs200361128 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOX3. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SOX3Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Cytoband: Xq27.1
HGVS: NM_005634.3(SOX3):c.157G>C (p.Val53Leu)
Allele change: Missense_V53L

Associated conditions / phenotypes

Abnormality of brain morphology|History of neurodevelopmental disorder

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.