NM_145861.4(EDARADD):c.*1303T>G AND Hypohidrotic ectodermal dysplasia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001102500.4
Allele description [Variation Report for NM_145861.4(EDARADD):c.*1303T>G]
NM_145861.4(EDARADD):c.*1303T>G
Condition(s)
- Name:
- Hypohidrotic ectodermal dysplasia (HED)
- Identifiers:
- MONDO: MONDO:0016535; MedGen: C5848103; Orphanet: 238468; Human Phenotype Ontology: HP:0007607
-
Homo sapiens structural maintenance of chromosomes flexible hinge domain contain...
Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNAgi|148839304|ref|NM_015295.2|Nucleotide
-
Ca/Cm-dependent protein kinase B [Aureobasidium pullulans]
Ca/Cm-dependent protein kinase B [Aureobasidium pullulans]gi|1624973496|gb|THW89120.1||gnl|WG R|D6D15_05512-RAProtein
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Last Updated: Jun 29, 2024