NM_005592.4(MUSK):c.2332C>T (p.Arg778Cys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001321683.6
Allele description [Variation Report for NM_005592.4(MUSK):c.2332C>T (p.Arg778Cys)]
NM_005592.4(MUSK):c.2332C>T (p.Arg778Cys)
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
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Homo sapiens annexin A8 (ANXA8), mRNA
Homo sapiens annexin A8 (ANXA8), mRNAgi|4502112|ref|NM_001630.1|Nucleotide
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Homo sapiens G protein-coupled receptor 177, mRNA (cDNA clone MGC:168733 IMAGE:9...
Homo sapiens G protein-coupled receptor 177, mRNA (cDNA clone MGC:168733 IMAGE:9021110), complete cdsgi|187953444|gb|BC137113.1|Nucleotide
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Homo sapiens G protein-coupled receptor 177, mRNA (cDNA clone IMAGE:3349207), pa...
Homo sapiens G protein-coupled receptor 177, mRNA (cDNA clone IMAGE:3349207), partial cdsgi|13938184|gb|BC007211.1|Nucleotide
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Last Updated: Sep 29, 2024