Amish, Mennonite, and Hutterite
Genetic Disorder Database

Aicardi-Goutieres syndrome 6

Disorder
OMIM #: #615010  (Click to access OMIM database)
Disorder: Aicardi-Goutieres syndrome 6 
Also known as: AGS6 
Clinical
Phenotype:  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Order Mennonite  
Gene: ADAR
Base Change: C>G, at nucleotide 577
Amino Acid Change:
2   Old Order Mennonite  
Gene: ADAR
Base Change: ins.T, at nucleotide 296
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

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