← New search
Variant profile

p.Cys169Tyr

p.Cys169Tyr · SaudiVarKB evidence summary derived from retained literature mentions.

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

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
GJB2HGNC:428411
TMEM59HGNC:123911

Associated phenotype records

Co-mentioned in the same publications
PhenotypeIdentifier / contextArticlesMentions
hearing lossHP:000036511

Associated population records

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

Supporting publications

1 records
  1. 2021Whole exome sequencing, in silico and functional studies confirm the association of the GJB2 mutation p.Cys169Tyr with deafness and suggest a role for the TMEM59 gene in the hearing process.Saudi journal of biological sciencesPubMed ↗