SASS6, SAS-6 centriolar assembly protein, 163786

N. diseases: 36; N. variants: 2
Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1193888919
rs1193888919
Entrez Id: 163786
Gene Symbol: SASS6
SASS6
CUI: C0432072
Disease:
Dysmorphic features 		GT 0.700 GeneticVariation CLINVAR Molecular and cellular basis of autosomal recessive primary microcephaly. 25548773 2014
dbSNP: rs1193888919
rs1193888919
Entrez Id: 163786
Gene Symbol: SASS6
SASS6
CUI: C0432072
Disease:
Dysmorphic features 		GT 0.700 GeneticVariation CLINVAR A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. 24951542 2014
dbSNP: rs1193888919
rs1193888919
Entrez Id: 163786
Gene Symbol: SASS6
SASS6
CUI: C0432072
Disease:
Dysmorphic features 		GT 0.700 GeneticVariation CLINVAR Structural basis of the 9-fold symmetry of centrioles. 21277013 2011
dbSNP: rs1193888919
rs1193888919
Entrez Id: 163786
Gene Symbol: SASS6
SASS6
CUI: C0432072
Disease:
Dysmorphic features 		GT 0.700 GeneticVariation CLINVAR Structures of SAS-6 suggest its organization in centrioles. 21273447 2011