Factor IX Deficiency
Haemophilia B, Clotting Factor IX
Factor IX Deficiency
Discussion
Clinical Comments: Blood coagulation problems noted in pregnant/ postpartum females. Some animals prolonged bleeding from injuries/surgeries.
Genetics
Inheritance
XR
OMIA
000438
OMIA Variant
000046
OMIA URL
https://omia.org/OMIA000438/9615/
OMIN
306900
Gene
FIX; F9
Variants
OMIAV46: g.109532018G>A; c.1253G>A; p.(G418E); Kuder et al. (2021): NM_001003323.2): c.1253G>A; NP_001003323.1:; p.(G418E); OMIAV47: g.109530847G>A; c.731G>A; p.(G237E); Kuder et al. (2021): NM_001003323.2): c.731G>A; NP_001003323.1: p.(G237E)
Variants Comments
Also OMIA variant 47. OMIA records specific variants by breed. OMIA 46 for Cairn Terrier, and OMIA 47 for Rhodesian Ridgeback.
Testing
Test Types
Genetic-Genomic
Assessments
Specific Genetic Test
Assays
dwn_cnd_
Connections
- Updated