Variant (rsID / SNP)

rs8020424

rs8020424 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VSX2. Location: chromosome 14, position 74,728,924. Clinical significance in the table: Benign.

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Reference-table entries

VSX2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 14:74728924
Cytoband: 14q24.3
HGVS: NM_182894.3(VSX2):c.*1302G>A
Allele change: Silent

Associated conditions / phenotypes

Microphthalmia, isolated, with coloboma 3|Isolated microphthalmia 2

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.