Myelodysplastic Syndrome(Myelodysplastic syndrome, somatic)
An Unknown mode(s) within the Blood disorders category
Candidate Gene Information
An Unknown mode(s) within the Blood 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 | MT-TL1/4567 | mitochondrially encoded tRNA leucine 1 (UUA/G) | - | ChrMT, NC_012920.1 (3230..3304) |
75 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | MT-CO1/4512 | mitochondrially encoded cytochrome c oxidase I | - | ChrMT, NC_012920.1 (5904..7445) |
1542 nt | 0 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | GATA2/2624 | GATA binding protein 2 | 3q21.3 | Chr3, NC_000003.12 (128479422..128493201, complement) |
13780 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | NRAS/4893 | NRAS proto-oncogene, GTPase | 1p13.2 | Chr1, NC_000001.11 (114704469..114716771, complement) |
12303 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | SF3B1/23451 | splicing factor 3b subunit 1 | 2q33.1 | Chr2, NC_000002.12 (197389784..197435093, complement) |
45310 nt | 27 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | FLT3/2322 | fms related receptor tyrosine kinase 3 | 13q12.2 | Chr13, NC_000013.11 (28003274..28100576, complement) |
97303 nt | 27 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | 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 |
| 8 | 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 |
| 9 | IDH2/3418 | isocitrate dehydrogenase (NADP(+)) 2 | 15q26.1 | Chr15, NC_000015.10 (90083045..90102468, complement) |
19424 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | TET2/54790 | tet methylcytosine dioxygenase 2 | 4q24 | Chr4, NC_000004.12 (105145875..105279803) |
133929 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | DDX41/51428 | DEAD-box helicase 41 | 5q35.3 | Chr5, NC_000005.10 (177511577..177516961, complement) |
5385 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 12 | ASXL1/171023 | ASXL transcriptional regulator 1 | 20q11.21 | Chr20, NC_000020.11 (32358331..32439319) |
80989 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 13 | SAMD9/54809 | sterile alpha motif domain containing 9 | 7q21.2 | Chr7, NC_000007.14 (93099518..93117979, complement) |
18462 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |