Variant (rsID / SNP)

rs132630309

rs132630309 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.206G>T (p.Arg69Leu)
Allele change: Missense_R69L

Associated conditions / phenotypes

Hypohidrotic X-linked ectodermal dysplasia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.