Li-Fraumeni Syndrome(Sarcoma family syndrome of Li and Fraumeni) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Cancer disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Cancer disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | CHEK2/11200 | checkpoint kinase 2 | 22q12.1 | Chr22, NC_000022.11 (28687743..28741834, complement) |
54092 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | TP53/7157 | tumor protein p53 | 17p13.1 | Chr17, NC_000017.11 (7668421..7687490, complement) |
19070 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |