Variant (rsID / SNP)
rs132630319
rs132630319 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EDA. Clinical significance in the table: Pathogenic.
Reference-table entries
EDAPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Cytoband
- Xq13.1
- HGVS
- NM_001399.5(EDA):c.193C>G (p.Arg65Gly)
- Allele change
- Missense_R65G
Associated conditions / phenotypes
Tooth agenesis, selective, X-linked, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.