Garrett's House is dedicated to the support, advice, and education of a genetic skin condition called Epidermolysis Bullosa or EB for short. Currently there is no cure or effective treatment for EB. Please take a moment to learn about EB, and how you can support others who struggle with EB everyday. Garrett's House also honors the memory of those who lost their brave fight against EB. Please check out the Garden of Angel to learn more about the precious butterfly angels.

October 22, 2025

Junctional EB Col17a1 Mutations

Junctional EB Col17a1 Mutations 


c. R1814_G1815del_ins (framshift)
c. 10A>G  (missense) 
c. 1139C>T (missense) 
c. 1339G>T (missense) 
c. 1834G>A (missense) 
c. 2444C>T (missense) 
c. 2566C>T (missense) 
c. 3908G>A (missense) 
c. 1271G>T (nonsense) 
c. 2356C>T (nonsense) 
c. 2407G>T (nonsense) 
c. 2564T>G (nonsense) 
c. 3505C>T (nonsense) 
c. 3676C>T (nonsense) 
c. 3781C>T (nonsense) 
c. 796T>G (nonsense) 
c. 2383C>T (nonsense) 
c. 1284delA (PTC) 
c. 1365delC (PTC) 
c. 1706delA (PTC) 
c. 2342delG (PTC) 
c. 3000_3008del (PTC) 
c. 3236delC (PTC) 
c. 3432delT (PTC) 
c. 4144del4 (PTC) 
c. 4425delT (PTC) 
c. 399delA (PTC) 
c. 1221+4A>G (splice) 
c. 1744-2A>C (splice) 
c. 1877-2A>C (splice) 
c. 2003-1G>C (splice) 
c. 202+6T>G (splice) 
c. 3071-5G>A (splice) 
c. 3418+2delT (splice) 
c. 3766+5G>A (splice) 
c. 4156+1G>A (splice) 
c. 4424_5insC (splice) 
c. 8305-1G>A (splice) 
c. IVS51+1G>A (splice) 
c. 3198C>T (synonymous)