NM_022336.4(EDAR):c.243A>G (p.Lys81=) AND multiple conditions
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Aug 29, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002539125.10
Allele description [Variation Report for NM_022336.4(EDAR):c.243A>G (p.Lys81=)]
NM_022336.4(EDAR):c.243A>G (p.Lys81=)
Condition(s)
- Name:
- Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant (ECTD10A)
- Synonyms:
- Ectodermal Dysplasia 3, Anhidrotic
- Identifiers:
- MONDO: MONDO:0007509; MedGen: C3888065; Orphanet: 1810; Orphanet: 238468; OMIM: 129490
- Name:
- Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
- Synonyms:
- Autosomal recessive hypohidrotic ectodermal dysplasia
- Identifiers:
- MONDO: MONDO:0016619; MedGen: C0406702
-
PREDICTED: Oryza sativa Japonica Group disease resistance protein RGA2 (LOC10727...
PREDICTED: Oryza sativa Japonica Group disease resistance protein RGA2 (LOC107276082), mRNAgi|1443051388|ref|XM_015760764.2|Nucleotide
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Last Updated: Oct 20, 2024