2 Matching Annotations
- Dec 2023
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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de novo variant (c.2738_2739delAT [p.Tyr913∗])
Case: DiseaseAssertion: FamilyInfo: CasePresentingHPOs: CaseHPOFreeText: CaseNOTHPOs: CaseNOTHPOFreeText: CasePreviousTesting: GenotypingMethod: PreviouslyPublished: as applicable SupplementalData: as applicable Variant: ClinVarID: A curator only needs to include either a ClinVarID or CAID, not both. CAID: d gnomAD: VariantEvidence: Only use if applicable
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- May 2022
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Embryonal rhabdomyosarcoma (ERMS) of the uterus has recently been shown to frequently harbor DICER1 mutations.
HGNCID:
Tags
- Mutation: c.5438 A> C
- Mutation: 5428 G>C
- Mutation: c.5125G > A
- Mutation: c.4420A>G
- Mutation: c.4267G>T
- PMID (PubMed ID): 33846547
- pathogenicity: only 2 of 17 patients died from disease
- Family Information: not identified
- Disease Entity: Embryonal rhabdomyosarcoma (ERMS)
- Zygosity: Some Cases displayed homozygosity
- case wt: m&f 0.5-19
- Mutation: c.3580delA
- Variant: Clinvar ID not identified
- Inheritance Pattern: Non- inheritance(DNA methylation)
- Mutation: c5113G>A
- Mutation: c.5428G>T
- case mut: f 28-67
- GeneName: DICER1
Annotators
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