Variant (rsID / SNP)
rs56139994
rs56139994 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PAX6. Location: chromosome 11, position 31,832,367. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
PAX6Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:31832367
- Cytoband
- 11p13
- HGVS
- NM_001368894.2(PAX6):c.-129+9G>A
- Allele change
- Silent
Associated conditions / phenotypes
carboxymethyl-dextran-A2-gadolinium-DOTA|Foveal hypoplasia 1|Aniridia 1|Autosomal dominant keratitis|Congenital aniridia|Anophthalmia-microphthalmia syndrome|11p partial monosomy syndrome|Aniridia 1|Irido-corneo-trabecular dysgenesis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.