Variant (rsID / SNP)

rs132630311

rs132630311 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EDA. Clinical significance in the table: Pathogenic.

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Reference-table entries

EDAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq13.1
HGVS: NM_001399.5(EDA):c.187G>A (p.Glu63Lys)
Allele change: Missense_E63K

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.