1 Matching Annotations
- 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
- Disease Entity: Embryonal rhabdomyosarcoma (ERMS)
- GeneName: DICER1
- PMID (PubMed ID): 33846547
- case mut: f 28-67
- Inheritance Pattern: Non- inheritance(DNA methylation)
- Mutation: c.5125G > A
- Mutation: c.4420A>G
- Mutation: 5428 G>C
- Mutation: c.5428G>T
- Mutation: c.4267G>T
- Variant: Clinvar ID not identified
- case wt: m&f 0.5-19
- Mutation: c5113G>A
- Mutation: c.5438 A> C
- Mutation: c.3580delA
- pathogenicity: only 2 of 17 patients died from disease
- Family Information: not identified
- Zygosity: Some Cases displayed homozygosity
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