Variant (rsID / SNP)
rs132630310
rs132630310 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.67C>T (p.Gln23Ter)
- Allele change
- Nonsense_Q23X
Associated conditions / phenotypes
Hypohidrotic X-linked ectodermal dysplasia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.