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Variant (rsID / SNP)

rs121908453

EDAR

rs121908453 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EDAR. Location: chromosome 2, position 109,513,451. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

EDARPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:109513451
Cytoband
2q13
HGVS
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)
Allele change
Missense_R420Q

Associated conditions / phenotypes

Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome|Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive

Public references

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