Variant (rsID / SNP)
rs141176394
rs141176394 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PITX2. Location: chromosome 4, position 111,539,617. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PITX2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 4:111539617
- Cytoband
- 4q25
- HGVS
- NM_000325.6(PITX2):c.639A>T (p.Ser213=)
- Allele change
- Synonymous_S206S
Associated conditions / phenotypes
PITX2-Related Eye Abnormalities|Irido-corneo-trabecular dysgenesis|Ring dermoid of cornea|Hypoplasia of the iris|Axenfeld-Rieger syndrome type 1|Cataract|Anterior segment dysgenesis 1|Anterior segment dysgenesis 4|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.