SASS6, SAS-6 centriolar assembly protein, 163786

N. diseases: 36; N. variants: 2
Disease: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876661307
rs876661307
Entrez Id: 163786
Gene Symbol: SASS6
SASS6
CUI: C4225338
Disease:
MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. 24951542 2014
dbSNP: rs876661307
rs876661307
Entrez Id: 163786
Gene Symbol: SASS6
SASS6
CUI: C4225338
Disease:
MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE 		G 0.800 CausalMutation CLINVAR