NM_031889.3(ENAM):c.*653T>A AND Amelogenesis imperfecta
- 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:
- RCV001155970.4
Allele description [Variation Report for NM_031889.3(ENAM):c.*653T>A]
NM_031889.3(ENAM):c.*653T>A
Condition(s)
- Name:
- Amelogenesis imperfecta (AI)
- Synonyms:
- Congenital enamel hypoplasia
- Identifiers:
- MONDO: MONDO:0019507; MedGen: C0002452; OMIM: PS104500; Human Phenotype Ontology: HP:0000705
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nuclear valosin-containing protein-like isoform X13 [Homo sapiens]
nuclear valosin-containing protein-like isoform X13 [Homo sapiens]gi|2462509643|ref|XP_054192793.1|Protein
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PREDICTED: Homo sapiens nuclear VCP like (NVL), transcript variant X13, mRNA
PREDICTED: Homo sapiens nuclear VCP like (NVL), transcript variant X13, mRNAgi|2217267816|ref|XM_047421635.1|Nucleotide
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nuclear valosin-containing protein-like isoform X9 [Homo sapiens]
nuclear valosin-containing protein-like isoform X9 [Homo sapiens]gi|2462509635|ref|XP_054192789.1|Protein
-
Crustacea cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial.
Crustacea cytochrome oxidase subunit 1 (COI) gene, partial cds; mitochondrial.PopSet: 116607414PopSet
-
602311907F1 NIH_MGC_84 Homo sapiens cDNA clone IMAGE:4421928 5', mRNA sequence
602311907F1 NIH_MGC_84 Homo sapiens cDNA clone IMAGE:4421928 5', mRNA sequencegi|12599546|gnl|dbEST|7664986|gb|BG 0.1|Nucleotide
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Last Updated: Dec 24, 2023