NM_173660.5(DOK7):c.577A>G (p.Ser193Gly) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000700198.5
Allele description [Variation Report for NM_173660.5(DOK7):c.577A>G (p.Ser193Gly)]
NM_173660.5(DOK7):c.577A>G (p.Ser193Gly)
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
Assertion and evidence details
Last Updated: May 7, 2024