Variant (rsID / SNP)

rs121912543

rs121912543 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to VSX2. Location: chromosome 14, position 74,726,324. Clinical significance in the table: Pathogenic.

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Reference-table entries

VSX2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:74726324
Cytoband: 14q24.3
HGVS: NM_182894.3(VSX2):c.599G>A (p.Arg200Gln)
Allele change: Missense_R200P

Associated conditions / phenotypes

Microphthalmia, cataracts, and iris abnormalities|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.