NM_022336.4(EDAR):c.1174_1185del (p.Thr392_Met395del) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003801221.1
Allele description [Variation Report for NM_022336.4(EDAR):c.1174_1185del (p.Thr392_Met395del)]
NM_022336.4(EDAR):c.1174_1185del (p.Thr392_Met395del)
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
-
V(D)J recombination-activating protein 1 [Homo sapiens]
V(D)J recombination-activating protein 1 [Homo sapiens]gi|1787508892|ref|NP_001364208.1|Protein
-
large ribosomal subunit protein uL18m isoform 2 [Homo sapiens]
large ribosomal subunit protein uL18m isoform 2 [Homo sapiens]gi|974005338|ref|NP_001305746.1|Protein
-
Zea mays
Zea maysZea mays Genome sequencing and assemblyBioProject
-
Zea mays subsp. mays
Zea mays subsp. maysDeep DNA resequencing of the association mapping panelBioProject
-
Triphalangeal hallux
Triphalangeal halluxMedGen
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See more...Assertion and evidence details
Last Updated: Mar 5, 2024