Vitamin K-dependent Clotting Factors, Combined Deficiency Of, Type 1(Vitamin K-dependent coagulation defect)
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 | GGCX/2677 | gamma-glutamyl carboxylase | 2p11.2 | Chr2, NC_000002.12 (85544720..85561493, complement) |
16774 nt | 15 | 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 |