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Variant profile

c.122A>G

c.122A>G · SaudiVarKB evidence summary derived from retained literature mentions.

1Variant mentions
1Publications
1Associated gene records
2Associated phenotype records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
STX3HGNC:1143811

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
intellectual disabilityHP:000124911
congenital cataract11

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Population record11

Supporting publications

1 records
  1. 2015Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family.Clinical geneticsPubMed ↗