Variant (rsID / SNP)
rs3026398
rs3026398 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAX6, ELP4. Location: chromosome 11, position 31,808,775. Clinical significance in the table: Benign.
Reference-table entries
PAX6Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:31808775
- Cytoband
- 11p13
- HGVS
- NM_019040.5(ELP4):c.*3703G>A
- Allele change
- Silent
Associated conditions / phenotypes
Autosomal dominant keratitis|11p partial monosomy syndrome|carboxymethyl-dextran-A2-gadolinium-DOTA|Aniridia, Cerebellar Ataxia, And Intellectual Disability|Foveal hypoplasia 1|Anophthalmia-microphthalmia syndrome|Aniridia 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.