Variant: rs111033178 

    present in Gene: MYO7A
    present in Chromosome: 11
    Position on Chromosome: 77190108
    Alleles of this Variant: G/A

rs111033178 in MYO7A gene and DEAFNESS, AUTOSOMAL RECESSIVE 2 PMID 22135276 2012 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

PMID 17361009 2007 MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

PMID 16679490 2006 Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

PMID 10094549 1999 Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

PMID 10930322 2000 Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.

PMID 18484607 2008 UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.

PMID 15043528 2004 Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.

rs111033178 in MYO7A gene and Multiple congenital anomalies PMID 10094549 1999 Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

PMID 15221449 2004 Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

PMID 21150918 2011 Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China.

PMID 8900236 1996 Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

PMID 9171833 1997 The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.

PMID 7870171 1995 Defective myosin VIIA gene responsible for Usher syndrome type 1B.

PMID 21174530 2011 Phenotypes in defined genotypes including siblings with Usher syndrome.

PMID 18181211 2008 Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.

PMID 20132242 2010 Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.

PMID 9354784 1997 Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene.

PMID 8776602 1996 A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene.

PMID 17361009 2007 MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

PMID 9382091 1997 Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.

rs111033178 in MYO7A gene and Overgrowth PMID 9171833 1997 The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.

PMID 7870171 1995 Defective myosin VIIA gene responsible for Usher syndrome type 1B.

PMID 8900236 1996 Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

PMID 8776602 1996 A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene.

PMID 9382091 1997 Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.

PMID 9354784 1997 Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene.

PMID 18181211 2008 Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.

PMID 20132242 2010 Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.

PMID 10094549 1999 Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

PMID 15221449 2004 Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

PMID 21150918 2011 Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China.

PMID 21174530 2011 Phenotypes in defined genotypes including siblings with Usher syndrome.

PMID 17361009 2007 MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

rs111033178 in MYO7A gene and Usher Syndrome PMID 10094549 1999 Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

rs111033178 in MYO7A gene and Usher Syndrome, Type I PMID 12112664 2002 Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively.

PMID 9718356 1998 Mutations in the myosin VIIA gene cause a wide phenotypic spectrum, including atypical Usher syndrome.

PMID 8900236 1996 Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

PMID 9002678 1997 Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.

PMID 10364543 1999 Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance.

PMID 24831256 2014 Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.

PMID 7870171 1995 Defective myosin VIIA gene responsible for Usher syndrome type 1B.

PMID 16679490 2006 Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

PMID 15660226 2005 Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

PMID 21569298 2011 Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

PMID 23559863 2013 Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.

PMID 9382091 1997 Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.

PMID 10094549 1999 Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

PMID 25798947 2015 Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.

PMID 10447383 1999 Identification of three novel mutations in the MYO7A gene.

PMID 10930322 2000 Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.