Variant: rs876661307

present in Gene: SASS6 present in Chromosome: 1 Position on Chromosome: 100123231 Alleles of this Variant: A/G

rs876661307 in SASS6 gene and MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE PMID 24951542 2014 A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.