GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders      

Alpha-2-plasmin Inhibitor Deficiency(Congenital alpha2-antiplasmin deficiency)      Explore Disorder's Alias
An Autosomal recessive mode(s) within the Blood disorders category
Reported Pathogenic variants
Candidate Gene Information
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