Variant (rsID / SNP)
rs6533526
rs6533526 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PITX2. Location: chromosome 4, position 111,538,827. Clinical significance in the table: Benign.
Reference-table entries
PITX2Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:111538827
- Cytoband
- 4q25
- HGVS
- NM_000325.6(PITX2):c.*454C>T
- Allele change
- Silent
Associated conditions / phenotypes
Anterior segment dysgenesis 1|PITX2-Related Eye Abnormalities|Cataract|Ring dermoid of cornea|Irido-corneo-trabecular dysgenesis|Hypoplasia of the iris|Axenfeld-Rieger syndrome type 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.