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Term ID: | 9814 |
Name: | Rhabdoid Tumor Predisposition Syndrome 1 |
Definition: | |
Alternative IDs: | OMIM:609322 |
ParentIDs: | MESH:D001932|MESH:D007680|MESH:D018335 |
TreeNumbers: | C04.557.435.710/C563738 |C04.588.614.250.195/C563738 |C04.588.945.947.535/C563738 |C10.228.140.211/C563738 |C10.551.240.250/C563738 |C12.758.820.750/C563738 |C12.777.419.473/C563738 |C13.351.937.820.535/C563738 |C13.351.968.419.473/C563738 |
Synonyms: | AT/RT, INCLUDED |Brain Tumor, Posterior Fossa, of Infancy, Familial |BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL MALIGNANT RHABDOID TUMOR, SOMATIC, INCLUDED |Malignant Rhabdoid Tumor, Somatic |RDT, INCLUDED |RHABDOID TUMOR, INCLUDED |RTPS1 |TERATOID TUMO |
Slim Mappings: | Cancer|Nervous system disease|Urogenital disease (female)|Urogenital disease (male) |
Reference: |
MedGen: C563738
MeSH: C563738
OMIM: 609322;
Genes: SMARCB1; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_003073.4(SMARCB1):c.591delG (p.Gln198Argfs) | 6598 | SMARCB1 | Pathogenic | 587776678 | RCV000008488; | N | MedGen:C1836327,OMIM:609322 | 22 | 24145572 | 24145572 | NM_003073.4:c.591delG | NP_003064.2:p.Gln198Argfs | | OMIM Allelic Variant:601607.0003 | C1836327 609322 Rhabdoid tumor predisposition syndrome 1 | | |
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