NM_005055.5(RAPSN):c.855G>A (p.Gln285=) AND Fetal akinesia deformation sequence 1
- Germline classification:
- Benign (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:
- RCV000300801.6
Allele description [Variation Report for NM_005055.5(RAPSN):c.855G>A (p.Gln285=)]
NM_005055.5(RAPSN):c.855G>A (p.Gln285=)
Condition(s)
- Name:
- Fetal akinesia deformation sequence 1 (FADS1)
- Synonyms:
- Pena Shokeir syndrome, type 1; Lethal Pena-Shokeir 1 syndrome; Pena-Shokeir syndrome type I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0100101; MedGen: C1276035; Orphanet: 994; OMIM: 208150; Human Phenotype Ontology: HP:0001989
-
E3 ubiquitin-protein ligase TRIM63 [Homo sapiens]
E3 ubiquitin-protein ligase TRIM63 [Homo sapiens]gi|19924163|ref|NP_115977.2|Protein
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Last Updated: Sep 29, 2024