Alpha-2-plasmin Inhibitor Deficiency(Congenital alpha2-antiplasmin deficiency) 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 | SERPINF2/5345 | serpin family F member 2 | 17p13.3 | Chr17, NC_000017.11 (1742871..1755265) |
12395 nt | 12 | 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 |