NM_145861.4(EDARADD):c.*12T>C 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:
- RCV001096997.4
Allele description [Variation Report for NM_145861.4(EDARADD):c.*12T>C]
NM_145861.4(EDARADD):c.*12T>C
Condition(s)
- Name:
- Hypohidrotic ectodermal dysplasia (HED)
- Identifiers:
- MONDO: MONDO:0016535; MedGen: C5848103; Orphanet: 238468; Human Phenotype Ontology: HP:0007607
-
RNA-binding (RRM/RBD/RNP motifs) family protein [Arabidopsis thaliana]
RNA-binding (RRM/RBD/RNP motifs) family protein [Arabidopsis thaliana]gi|1063729042|ref|NP_974809.2|Protein
-
NADH dehydrogenase subunit 4L (mitochondrion) [Incurvaria sp.]
NADH dehydrogenase subunit 4L (mitochondrion) [Incurvaria sp.]gi|2771400107|gb|XCX90151.1|Protein
-
cytochrome oxidase subunit 1, partial (mitochondrion) [Incurvaria sp. BOLD:ACI34...
cytochrome oxidase subunit 1, partial (mitochondrion) [Incurvaria sp. BOLD:ACI3470]gi|1031889252|gb|ANG50576.1|Protein
-
NADH dehydrogenase subunit 2 (mitochondrion) [Incurvaria sp.]
NADH dehydrogenase subunit 2 (mitochondrion) [Incurvaria sp.]gi|2771400098|gb|XCX90142.1|Protein
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Last Updated: Jun 29, 2024