From: Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation
Gene
Transcript
Position
Variant
Function
dbSNP
ExAC database
SIFT
PolyPhen
Mutation Taster
CADD score
DYNC1H1
NM_001376
Chr:14, 101,979,787
L196S
Missense
Novel
Damaging
Probably damaging
Disease causing
29.3