NM_001399.5(EDA):c.620G>A (p.Gly207Glu) AND Hypohidrotic X-linked ectodermal dysplasia
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Apr 23, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001291628.7
Allele description [Variation Report for NM_001399.5(EDA):c.620G>A (p.Gly207Glu)]
NM_001399.5(EDA):c.620G>A (p.Gly207Glu)
Condition(s)
- Name:
- Hypohidrotic X-linked ectodermal dysplasia (XHED)
- Synonyms:
- ECTODERMAL DYSPLASIA, HYPOHIDROTIC, 1; Anhidrotic ectodermal dysplasia X-linked; Christ Siemens Touraine syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010585; MedGen: C0162359; Orphanet: 181; Orphanet: 238468; OMIM: 305100
-
Transducin/WD40 repeat-like superfamily protein [Arabidopsis thaliana]
Transducin/WD40 repeat-like superfamily protein [Arabidopsis thaliana]gi|18410015|ref|NP_566994.1|Protein
-
cytochrome c oxidase subunit II (mitochondrion) [Echinops telfairi]
cytochrome c oxidase subunit II (mitochondrion) [Echinops telfairi]gi|11994080|gnl|NCBI_MITO|COX2_1556 |NP_072060.1|COX2_15563Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024