GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Hereditary Factor VIII Deficiency Disease(Hemophilia A) 
An X-linked dominant 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 F8/2157 coagulation factor VIII Xq28 ChrX, NC_000023.11
(154835792..155022723, complement)
186932 nt 27 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 F9/2158 coagulation factor IX Xq27.1 ChrX, NC_000023.11
(139530739..139563459)
32721 nt 8 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