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Variant (rsID / SNP)

rs132630315

EDA

rs132630315 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EDA. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

EDAConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Cytoband
Xq13.1
HGVS
NM_001399.5(EDA):c.626C>T (p.Pro209Leu)
Allele change
Missense_P209L

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.