present in Gene: SUFU
present in Chromosome: 10
Position on Chromosome: 102592654
Alleles of this Variant: A/G
rs1554852272 in
SUFU gene and
JOUBERT SYNDROME 32
PMID 28965847 2017 Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.