Variant: rs104893793 

    present in Gene: RHO
    present in Chromosome: 3
    Position on Chromosome: 129531005
    Alleles of this Variant: C/A;T

rs104893793 in RHO gene and Cone-Rod Dystrophies PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs104893793 in RHO gene and Night Blindness, Congenital Stationary, Autosomal Dominant 1 PMID 9380676 1997 Structure and function in rhodopsin: packing of the helices in the transmembrane domain and folding to a tertiary structure in the intradiscal domain are coupled.

PMID 21094163 2011 Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations.

PMID 21219898 2011 Rod photoreceptor temporal properties in retinitis pigmentosa.

PMID 17488458 2007 Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F.

PMID 8088850 1994 Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.

PMID 7981701 1994 Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.

PMID 12871954 2003 Retinitis pigmentosa rhodopsin mutations L125R and A164V perturb critical interhelical interactions: new insights through compensatory mutations and crystal structure analysis.

rs104893793 in RHO gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs104893793 in RHO gene and Retinitis Pigmentosa 4 PMID 2215617 1990 Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.

PMID 7987326 1994 Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa.

PMID 2239971 1990 Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe.

PMID 8081400 1994 Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa.

PMID 8088850 1994 Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.

PMID 2137202 1990 A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.

PMID 7981701 1994 Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.

PMID 8554077 1996 Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.

PMID 8317502 1993 Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.

PMID 7987331 1994 Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

PMID 8353500 1993 Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin.

PMID 7633434 1995 Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347.

PMID 19960070 2009 A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.

PMID 1985460 1991 A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.

PMID 1897520 1991 Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis.

PMID 1833777 1991 Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.

PMID 1840561 1991 Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa.

PMID 1302614 1992 Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family.

PMID 12566452 2003 Pharmacological chaperone-mediated in vivo folding and stabilization of the P23H-opsin mutant associated with autosomal dominant retinitis pigmentosa.

PMID 1391967 1992 Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP).