Glanzmann Thrombasthenia(Thrombasthenia) Explore Disorder's Alias
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 | ITGA2B/3674 | integrin subunit alpha 2b | 17q21.31 | Chr17, NC_000017.11 (44372181..44389649, complement) |
17469 nt | 30 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
2 | ITGB3/3690 | integrin subunit beta 3 | 17q21.32 | Chr17, NC_000017.11 (47253827..47313743) |
59917 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |