NM_002855.5(NECTIN1):c.*2857A>C AND Cleft lip/palate-ectodermal dysplasia syndrome
- Germline classification:
- Benign (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:
- RCV001102888.5
Allele description [Variation Report for NM_002855.5(NECTIN1):c.*2857A>C]
NM_002855.5(NECTIN1):c.*2857A>C
Condition(s)
- Name:
- Cleft lip/palate-ectodermal dysplasia syndrome (CLPED1)
- Synonyms:
- ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE; ECTODERMAL DYSPLASIA, TYPE 4; Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009151; MedGen: C2931488; Orphanet: 3253; OMIM: 225060
-
Cronius ruber 16S ribosomal RNA gene, partial sequence; mitochondrial.
Cronius ruber 16S ribosomal RNA gene, partial sequence; mitochondrial.PopSet: 1123460000PopSet
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Last Updated: Sep 29, 2024