Variant (rsID / SNP)
rs143477661
rs143477661 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAX6. Location: chromosome 11, position 31,812,304. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PAX6Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:31812304
- Cytoband
- 11p13
- HGVS
- NM_001368894.2(PAX6):c.1179A>C (p.Thr393=)
- Allele change
- Synonymous_T243T
Associated conditions / phenotypes
carboxymethyl-dextran-A2-gadolinium-DOTA|Aniridia, Cerebellar Ataxia, And Intellectual Disability|11p partial monosomy syndrome|Autosomal dominant keratitis|Anophthalmia-microphthalmia syndrome|Foveal hypoplasia 1|Aniridia 1|Irido-corneo-trabecular dysgenesis|Aniridia 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.