Variant (rsID / SNP)
rs202132697
rs202132697 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PXDN. Location: chromosome 2, position 1,652,362. Clinical significance in the table: Benign.
Reference-table entries
PXDNBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:1652362
- Cytoband
- 2p25.3
- HGVS
- NM_012293.3(PXDN):c.3190G>A (p.Ala1064Thr)
- Allele change
- Missense_A1064T
Associated conditions / phenotypes
Developmental cataract|Anterior segment dysgenesis 7
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.