NM_005592.4(MUSK):c.2393A>G (p.Tyr798Cys) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000653236.7
Allele description [Variation Report for NM_005592.4(MUSK):c.2393A>G (p.Tyr798Cys)]
NM_005592.4(MUSK):c.2393A>G (p.Tyr798Cys)
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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3. DISCUSSION - Key policies for addressing the social determinants of health an...
3. DISCUSSION - Key policies for addressing the social determinants of health and health inequities
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Homo sapiens transmembrane protein 9 (TMEM9), transcript variant 7, mRNA
Homo sapiens transmembrane protein 9 (TMEM9), transcript variant 7, mRNAgi|1890265854|ref|NM_001288569.2|Nucleotide
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Homo sapiens tetraspanin 15 (TSPAN15), transcript variant 1, mRNA
Homo sapiens tetraspanin 15 (TSPAN15), transcript variant 1, mRNAgi|1519311839|ref|NM_012339.5|Nucleotide
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hydroxymethylglutaryl-CoA synthase, mitochondrial isoform 2 precursor [Homo sapi...
hydroxymethylglutaryl-CoA synthase, mitochondrial isoform 2 precursor [Homo sapiens]gi|260656028|ref|NP_001159579.1|Protein
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AGENCOURT_14929795 NICHD_XGC_Emb8 Xenopus tropicalis cDNA clone IMAGE:6982537 5'...
AGENCOURT_14929795 NICHD_XGC_Emb8 Xenopus tropicalis cDNA clone IMAGE:6982537 5', mRNA sequencegi|33246635|gnl|dbEST|19307117|gb|C 67.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024