GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Glioblastoma(Gliosarcoma (histologic variant)) 
An Unknown mode(s) within the Cancer disorders category
Reported Pathogenic variants
Candidate Gene Information
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