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Variant profile

p.Arg1792His

p.Arg1792His · SaudiVarKB evidence summary derived from retained literature mentions.

1Variant mentions
1Publications
4Associated gene records
1Associated phenotype records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
GJB2HGNC:428411
MYO7AHGNC:760611
SLC26A4HGNC:881811
OTOFHGNC:851511

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
Saudi ArabiaCohort 3311

Supporting publications

1 records
  1. 2018Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.Genetics in medicine : official journal of the American College of Medical GeneticsPubMed ↗