NM_057175.5(NAA15):c.239_240del (p.His80fs) AND Global developmental delay
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002463726.1
Allele description [Variation Report for NM_057175.5(NAA15):c.239_240del (p.His80fs)]
NM_057175.5(NAA15):c.239_240del (p.His80fs)
Condition(s)
- Name:
- Global developmental delay (DD)
- Identifiers:
- MedGen: C0557874; Human Phenotype Ontology: HP:0001263
-
epithelial cell adhesion molecule, partial [Homo sapiens]
epithelial cell adhesion molecule, partial [Homo sapiens]gi|2283864898|dbj|BDQ05171.1|Protein
-
roadblock/LC7 domain-containing protein [Leptolyngbya sp. FACHB-541]
roadblock/LC7 domain-containing protein [Leptolyngbya sp. FACHB-541]gi|1909922899|ref|WP_190797580.1|Protein
-
Homo sapiens formin binding protein 4 (FNBP4), RefSeqGene on chromosome 11
Homo sapiens formin binding protein 4 (FNBP4), RefSeqGene on chromosome 11gi|1183596760|ref|NG_053146.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024