Neuroblastoma(ALK-Related Neuroblastic Tumor Susceptibility) Explore Disorder's Alias
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 | KIF1B/23095 | kinesin family member 1B | 1p36.22 | Chr1, NC_000001.11 (10210570..10381603) |
171034 nt | 52 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
2 | PHOX2B/8929 | paired like homeobox 2B | 4p13 | Chr4, NC_000004.12 (41744082..41748725, complement) |
4644 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
3 | ALK/238 | ALK receptor tyrosine kinase | 2p23.2 | Chr2, NC_000002.12 (29192774..29921586, complement) |
728813 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
4 | FGFR1/2260 | fibroblast growth factor receptor 1 | 8p11.23 | Chr8, NC_000008.11 (38411143..38468635, complement) |
57493 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
5 | MYC/4609 | MYC proto-oncogene, bHLH transcription factor | 8q24.21 | Chr8, NC_000008.11 (127735434..127742951) |
7518 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
6 | BRCA2/675 | BRCA2 DNA repair associated | 13q13.1 | Chr13, NC_000013.11 (32315508..32400268) |
84761 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
7 | SMARCA4/6597 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 | 19p13.2 | Chr19, NC_000019.10 (10961030..11062273) |
101244 nt | 40 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
8 | PTCH1/5727 | patched 1 | 9q22.32 | Chr9, NC_000009.12 (95442980..95516971, complement) |
73992 nt | 28 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: Orphanet GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |