1 Matching Annotations
- May 2022
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Embryonal rhabdomyosarcoma (ERMS) of the uterus has recently been shown to frequently harbor DICER1 mutations.
HGNCID:
Tags
- Mutation: c.4420A>G
- Mutation: c5113G>A
- Mutation: c.5125G > A
- Variant: Clinvar ID not identified
- Disease Entity: Embryonal rhabdomyosarcoma (ERMS)
- Family Information: not identified
- pathogenicity: only 2 of 17 patients died from disease
- Mutation: c.4267G>T
- PMID (PubMed ID): 33846547
- Inheritance Pattern: Non- inheritance(DNA methylation)
- Mutation: c.5438 A> C
- Zygosity: Some Cases displayed homozygosity
- GeneName: DICER1
- Mutation: c.3580delA
- Mutation: 5428 G>C
- Mutation: c.5428G>T
- case mut: f 28-67
- case wt: m&f 0.5-19
Annotators
URL
-