Variant (rsID / SNP)

rs121918652

rs121918652 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SOX2. Location: chromosome 3, position 181,430,537. Clinical significance in the table: Pathogenic.

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Reference-table entries

SOX2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 3:181430537
Cytoband: 3q26.33
HGVS: NM_003106.4(SOX2):c.389G>C (p.Gly130Ala)
Allele change: Silent

Associated conditions / phenotypes

Optic nerve hypoplasia and abnormalities of the central nervous system

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.