Brca2 heterozygous mutation germ line mutation. Medical search. Frequent questions

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Anatomy23

Cell Line Germ Cells Cell Line, Tumor Testis Gonads Cells, Cultured Cell Line, Transformed COS Cells Spermatozoa Germ Layers Fibroblasts Spermatogonia X Chromosome Oocytes Cell Nucleus Spermatocytes Tumor Cells, Cultured Embryo, Nonmammalian Tooth Germ Ovary Seminiferous Tubules Embryo, Mammalian HeLa Cells

Organisms13

Caenorhabditis elegans Drosophila melanogaster Escherichia coli Mice, Transgenic Mice, Mutant Strains Mice, Inbred C57BL Drosophila Mice, Knockout Saccharomyces cerevisiae Cercopithecus aethiops Animals, Genetically Modified Chimera Cricetinae

Diseases47

Li-Fraumeni Syndrome Genetic Predisposition to Disease Breast Neoplasms Syndrome Neoplasms, Germ Cell and Embryonal Gitelman Syndrome Ectodermal Dysplasia Jervell-Lange Nielsen Syndrome Abnormalities, Multiple Ovarian Neoplasms Osteochondrodysplasias Vitelliform Macular Dystrophy Facies Steroid Metabolism, Inborn Errors Retinitis Pigmentosa Eye Abnormalities Usher Syndromes Anophthalmos Corneal Dystrophies, Hereditary 46, XX Disorders of Sex Development Fibrous Dysplasia, Polyostotic Craniofacial Abnormalities Hypotrichosis Hearing Loss, Sensorineural Gonadal Dysgenesis, 46,XY Craniosynostoses Loeys-Dietz Syndrome Pseudohypoaldosteronism Lipodystrophy Microcephaly Donohue Syndrome Disorders of Sex Development Myalgia Kallmann Syndrome Disease Models, Animal Failure to Thrive Familial Hypophosphatemic Rickets Neoplastic Syndromes, Hereditary Aniridia Ehlers-Danlos Syndrome Intellectual Disability Cell Transformation, Neoplastic Alexander Disease Hypogonadism Testicular Neoplasms Dyskeratosis Congenita Lipomatosis

Chemicals and Drugs54

BRCA1 Protein BRCA2 Protein Codon, Nonsense Transcription Factors DNA-Binding Proteins DNA Primers RNA, Messenger DNA Membrane Proteins Nuclear Proteins Eye Proteins Mutant Proteins Homeodomain Proteins RNA Splice Sites Carrier Proteins Codon Tumor Suppressor Proteins Proteins DNA, Neoplasm Repressor Proteins Wheat Germ Agglutinins Hepatocyte Nuclear Factor 1-beta Neoplasm Proteins Caenorhabditis elegans Proteins Drosophila Proteins DNA, Complementary Solute Carrier Family 12, Member 3 Trans-Activators Tumor Suppressor Protein p53 Protein-Serine-Threonine Kinases Codon, Terminator Receptors, Drug Sulfonylurea Receptors Recombinant Proteins Bacterial Proteins DNA, Mitochondrial Proto-Oncogene Proteins Potassium Channels, Inwardly Rectifying Recombinant Fusion Proteins Hepatocyte Nuclear Factor 1-alpha Nerve Tissue Proteins DNA Transposable Elements Proto-Oncogene Proteins B-raf GTP-Binding Protein alpha Subunits, Gs Ethylnitrosourea Bone Morphogenetic Protein Receptors, Type II Genetic Markers ATP-Binding Cassette Transporters Cytoskeletal Proteins Mutagens Cell Cycle Proteins Arginine Rad51 Recombinase ras Proteins

Analytical, Diagnostic and Therapeutic Techniques and Equipment31

Pedigree DNA Mutational Analysis Polymerase Chain Reaction Amino Acid Substitution Sequence Analysis, DNA Heterozygote Detection Genetic Testing Chromosome Mapping Mutagenesis, Site-Directed Transfection Models, Molecular Models, Genetic Sequence Alignment Facies Cloning, Molecular Reverse Transcriptase Polymerase Chain Reaction Genetic Complementation Test Genetic Association Studies Crosses, Genetic Blotting, Western Immunohistochemistry Sex Determination Analysis Mutagenesis, Insertional Case-Control Studies Restriction Mapping Disease Models, Animal Blotting, Southern Cohort Studies Models, Biological Gene Targeting Electroretinography

Psychiatry and Psychology6

Family 46, XX Disorders of Sex Development Disorders of Sex Development Myalgia Siblings Intellectual Disability

Phenomena and Processes86

Germ-Line Mutation Genes, BRCA1 Mutation, Missense Mutation Heterozygote Genes, BRCA2 Point Mutation Genes, p53 Base Sequence Genetic Predisposition to Disease Frameshift Mutation Genotype Microsatellite Repeats Exons Phenotype Homozygote Amino Acid Sequence Codon, Nonsense Exome Amino Acid Substitution Alleles Genes, Recessive Polymorphism, Single-Stranded Conformational Mutation Rate Genes, Dominant Sequence Deletion Protein Structure, Tertiary Gene Deletion Mutagenesis Penetrance Sequence Homology, Amino Acid Consanguinity Spermatogenesis Genetic Linkage Transcription, Genetic Transfection Founder Effect Promoter Regions, Genetic Protein Binding Signal Transduction Gene Expression Regulation, Developmental Binding Sites RNA Splice Sites Polymorphism, Genetic Gene Frequency Gene Expression Regulation Genetic Variation Codon Haploinsufficiency Recombination, Genetic Polymorphism, Single Nucleotide Gene Expression Suppression, Genetic DNA Repair Introns Loss of Heterozygosity Plasmids RNA Splicing Oogenesis Genes, Lethal Genes Cell Differentiation Mutagenesis, Insertional Apoptosis Codon, Terminator X Chromosome Myalgia Meiosis Gene Expression Regulation, Neoplastic DNA Transposable Elements Kinetics Mosaicism Genes, Insect Evolution, Molecular Conserved Sequence DNA Methylation Temperature Protein Conformation Structure-Activity Relationship Genetic Markers Phosphorylation Genes, Bacterial Selection, Genetic Time Factors Drug Resistance, Viral INDEL Mutation

Disciplines and Occupations2

Immunohistochemistry Genetic Counseling

Anthropology, Education, Sociology and Social Phenomena2

Family Siblings

Information Science3

Base Sequence Molecular Sequence Data Amino Acid Sequence

Named Groups4

Asian Continental Ancestry Group Jews Infant, Newborn Siblings

Health Care7

Genetic Testing Family Health Age of Onset Case-Control Studies Cohort Studies Temperature Genetic Counseling

Geographicals2

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Psychiatry and Psychology Phenomena and Processes Disciplines and Occupations Anthropology, Education, Sociology and Social Phenomena Information Science Named Groups Health Care

Germ-Line Mutation BRCA1 Protein Genes, BRCA1 Mutation, Missense BRCA2 Protein Mutation Heterozygote Genes, BRCA2 Pedigree DNA Mutational Analysis Li-Fraumeni Syndrome Point Mutation Polymerase Chain Reaction Genes, p53 Base Sequence Molecular Sequence Data Genetic Predisposition to Disease Frameshift Mutation Genotype Microsatellite Repeats Breast Neoplasms Exons Cell Line Phenotype Homozygote Amino Acid Sequence Codon, Nonsense Exome Amino Acid Substitution Alleles Germ Cells Genes, Recessive Sequence Analysis, DNA Polymorphism, Single-Stranded Conformational Heterozygote Detection Genetic Testing Mutation Rate Genes, Dominant Sequence Deletion Transcription Factors Syndrome Cell Line, Tumor DNA-Binding Proteins Neoplasms, Germ Cell and Embryonal DNA Primers Family Health Gitelman Syndrome Protein Structure, Tertiary Ectodermal Dysplasia Gene Deletion Chromosome Mapping RNA, Messenger DNA Mutagenesis, Site-Directed Mutagenesis Penetrance Membrane Proteins Jervell-Lange Nielsen Syndrome Nuclear Proteins Sequence Homology, Amino Acid Abnormalities, Multiple Asian Continental Ancestry Group Consanguinity Spermatogenesis Genetic Linkage Eye Proteins Transcription, Genetic Transfection Founder Effect Ovarian Neoplasms Mutant Proteins Models, Molecular Osteochondrodysplasias Models, Genetic Promoter Regions, Genetic Protein Binding Age of Onset Testis Sequence Alignment Vitelliform Macular Dystrophy Facies Signal Transduction Jews Gene Expression Regulation, Developmental Cloning, Molecular Homeodomain Proteins Steroid Metabolism, Inborn Errors Retinitis Pigmentosa Binding Sites RNA Splice Sites Reverse Transcriptase Polymerase Chain Reaction Polymorphism, Genetic Gene Frequency Gene Expression Regulation Caenorhabditis elegans Genetic Variation Carrier Proteins Eye Abnormalities Codon Gonads

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