Variant (rsID / SNP)

rs121908116

rs121908116 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to EDARADD. Location: chromosome 1, position 236,645,666. Clinical significance in the table: Pathogenic.

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Reference-table entries

EDARADDPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:236645666
Cytoband: 1q43
HGVS: NM_145861.4(EDARADD):c.365T>G (p.Leu122Arg)
Allele change: Missense_L122R

Associated conditions / phenotypes

Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

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.