Amish, Mennonite, and Hutterite
Genetic Disorder Database

Familial hypercholesterolemia 2

Disorder
OMIM #: #144010  (Click to access OMIM database)
Disorder: Familial hypercholesterolemia 2 
Also known as: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE  
Clinical
Phenotype:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: APOB
Base Change: G>A, at nucleotide 10580
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

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