Alpha Thalassemia(Alpha-thalassemia)
An Autosomal recessive mode(s) within the Blood disorders category
Candidate Gene Information
An Autosomal recessive 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 | ATRX/546 | ATRX chromatin remodeler | Xq21.1 | ChrX, NC_000023.11 (77504880..77786216, complement) |
281337 nt | 37 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | HBA2/3040 | hemoglobin subunit alpha 2 | 16p13.3 | Chr16, NC_000016.10 (172876..173710) |
835 nt | 3 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | HBA1/3039 | hemoglobin subunit alpha 1 | 16p13.3 | Chr16, NC_000016.10 (176680..177522) |
843 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 |