Variant (rsID / SNP)
rs121908450
rs121908450 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EDAR. Location: chromosome 2, position 109,545,744. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:109545744
- Cytoband
- 2q13
- HGVS
- NM_022336.4(EDAR):c.266G>A (p.Arg89His)
- Allele change
- Missense_R89H
Associated conditions / phenotypes
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive|Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant|Progressive sclerosing poliodystrophy|Mitochondrial DNA depletion syndrome 4b|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.