From: Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant
#Chrom
Position Hg19
Reference allele
Mutant allele
Gene
Type of mutation
Amino acid change
PolyPhen2 score
Sift score
Chr9
13641800
G
A
ADAMTSL2
Nonsynonymous
Gly421Ser
0.707
0.24