Glioblastoma(Gliosarcoma (histologic variant))
An Unknown mode(s) within the Cancer disorders category
Candidate Gene Information
An Unknown 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 | IDH1/3417 | isocitrate dehydrogenase (NADP(+)) 1 | 2q34 | Chr2, NC_000002.12 (208236227..208255071, complement) |
18845 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
2 | PIK3CA/5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 3q26.32 | Chr3, NC_000003.12 (179148126..179240093) |
91968 nt | 22 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
3 | EGFR/1956 | epidermal growth factor receptor | 7p11.2 | Chr7, NC_000007.14 (55019017..55211628) |
192612 nt | 32 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
4 | BRAF/673 | B-Raf proto-oncogene, serine/threonine kinase | 7q34 | Chr7, NC_000007.14 (140713328..140924929, complement) |
211602 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
5 | CREBBP/1387 | CREB binding protein | 16p13.3 | Chr16, NC_000016.10 (3725054..3880713, complement) |
155660 nt | 33 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
6 | 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 |
7 | ATM/472 | ATM serine/threonine kinase | 11q22.3 | Chr11, NC_000011.10 (108223067..108369102) |
146036 nt | 67 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
8 | MSH2/4436 | mutS homolog 2 | 2p21 | Chr2, NC_000002.12 (47403067..47709830) |
306764 nt | 46 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
9 | SLX4/84464 | SLX4 structure-specific endonuclease subunit | 16p13.3 | Chr16, NC_000016.10 (3581181..3611606, complement) |
30426 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
10 | DNMT3A/1788 | DNA methyltransferase 3 alpha | 2p23.3 | Chr2, NC_000002.12 (25227874..25342590, complement) |
114717 nt | 35 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: Orphanet GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |