Homozygous missense variant. Medical search. Frequent questions

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Diseases7

Cutis Laxa Genetic Predisposition to Disease Syndrome Abnormalities, Multiple Retinal Dystrophies Colorectal Neoplasms, Hereditary Nonpolyposis Breast Neoplasms

Chemicals and Drugs11

BRCA1 Protein BRCA2 Protein Ataxia Telangiectasia Mutated Proteins DNA-Binding Proteins Nuclear Proteins Tumor Suppressor Proteins Nerve Tissue Proteins Cell Cycle Proteins Adaptor Proteins, Signal Transducing Protein-Serine-Threonine Kinases Codon, Nonsense

Analytical, Diagnostic and Therapeutic Techniques and Equipment14

Pedigree DNA Mutational Analysis Sequence Analysis, DNA Chromosome Mapping Genetic Testing Case-Control Studies Amino Acid Substitution Genetic Association Studies Genome-Wide Association Study Polymerase Chain Reaction Sequence Alignment Cohort Studies Models, Molecular Risk Factors

Phenomena and Processes31

Mutation, Missense Homozygote Consanguinity Exome Genes, Recessive Mutation Exons Amino Acid Sequence Genetic Variation Phenotype Genetic Predisposition to Disease Base Sequence Polymorphism, Single Nucleotide Genotype Gene Frequency Germ-Line Mutation Heterozygote Alleles Amino Acid Substitution Frameshift Mutation Genes, BRCA1 Haplotypes Polymorphism, Genetic Genes, BRCA2 Linkage Disequilibrium Alternative Splicing Point Mutation Polymorphism, Single-Stranded Conformational Codon, Nonsense Protein Structure, Tertiary Sequence Homology, Amino Acid

Disciplines and Occupations1

Computational Biology

Information Science3

Molecular Sequence Data Amino Acid Sequence Base Sequence

Named Groups1

European Continental Ancestry Group

Health Care6

Genetic Testing Case-Control Studies Genome-Wide Association Study Age of Onset Cohort Studies Risk Factors

Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Phenomena and Processes Disciplines and Occupations Information Science Named Groups Health Care

Mutation, Missense Homozygote Consanguinity Pedigree DNA Mutational Analysis Exome Genes, Recessive Mutation Cutis Laxa Molecular Sequence Data Exons Amino Acid Sequence Genetic Variation Phenotype Sequence Analysis, DNA Genetic Predisposition to Disease Base Sequence Syndrome Abnormalities, Multiple Polymorphism, Single Nucleotide Genotype Gene Frequency Chromosome Mapping BRCA1 Protein Retinal Dystrophies Germ-Line Mutation Heterozygote Alleles Genetic Testing Case-Control Studies Amino Acid Substitution Frameshift Mutation Genes, BRCA1 Haplotypes Genetic Association Studies Polymorphism, Genetic Genes, BRCA2 Genome-Wide Association Study BRCA2 Protein Age of Onset Colorectal Neoplasms, Hereditary Nonpolyposis Ataxia Telangiectasia Mutated Proteins DNA-Binding Proteins Polymerase Chain Reaction Breast Neoplasms Computational Biology Sequence Alignment European Continental Ancestry Group Nuclear Proteins Cohort Studies Tumor Suppressor Proteins Models, Molecular Linkage Disequilibrium Nerve Tissue Proteins Cell Cycle Proteins Adaptor Proteins, Signal Transducing Protein-Serine-Threonine Kinases Alternative Splicing Point Mutation Risk Factors Polymorphism, Single-Stranded Conformational Codon, Nonsense Protein Structure, Tertiary Sequence Homology, Amino Acid

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