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Variant (rsID / SNP)

rs114632254

EDARADD

rs114632254 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EDARADD. Location: chromosome 1, position 236,645,609. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

EDARADDBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
1:236645609
Cytoband
1q43
HGVS
NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe)
Allele change
Missense_S103F

Associated conditions / phenotypes

Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive|Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant|Hypohidrotic ectodermal dysplasia

Public references

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