present in Gene: SASS6
present in Chromosome: 1
Position on Chromosome: 100107513
Alleles of this Variant: -/T
rs1193888919 in
SASS6 gene and
Dysmorphic features
PMID 24951542 2014 A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
PMID 21273447 2011 Structures of SAS-6 suggest its organization in centrioles.
PMID 21277013 2011 Structural basis of the 9-fold symmetry of centrioles.
PMID 25548773 2014 Molecular and cellular basis of autosomal recessive primary microcephaly.