NM_005592.4(MUSK):c.557G>C (p.Gly186Ala) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000700783.5
Allele description [Variation Report for NM_005592.4(MUSK):c.557G>C (p.Gly186Ala)]
NM_005592.4(MUSK):c.557G>C (p.Gly186Ala)
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: Mar 16, 2024