NM_002855.5(NECTIN1):c.*3405A>C AND Cleft lip/palate-ectodermal dysplasia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001104709.5
Allele description [Variation Report for NM_002855.5(NECTIN1):c.*3405A>C]
NM_002855.5(NECTIN1):c.*3405A>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
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Microbe sample from Enterococcus faecium
Microbe sample from Enterococcus faeciumbiosample
-
Microbe sample from Enterococcus hirae
Microbe sample from Enterococcus hiraebiosample
-
MAG TPA: hypothetical protein PLB06_05835 [Sulfurovum sp.]
MAG TPA: hypothetical protein PLB06_05835 [Sulfurovum sp.]tpg|HQS72785.1||gnl|WGS:DAOMDL|PLB0 35Protein
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Moschus cupreus isolate MT8454 cytochrome b (cytb) gene, partial cds; mitochondr...
Moschus cupreus isolate MT8454 cytochrome b (cytb) gene, partial cds; mitochondrialgi|2692333562|gb|PP429501.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Apr 9, 2023