Author: twinkl22004

IDC10 Code = G71.2 Genomic coordinate (human 12:57,243,458 STAC3). Cytoband (human 12q13.3 STAC3 ). Intraband%= 69.6% STAC3  OMIM’ genes @ 12q13.3 = 25 genes. ClinVar  = 320 reported STAC3 variants. Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Chromosome-12 Cytoband: WG2B2GC_CBG5B2G6 (12/29) “Native American Myopathy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (STAC3) INTRODUCTION. Congenital myopathy type-13 known … Continue reading “Native American Myopathy”, Victor McKusick, Mendelian Inheritance in Man, 1966. (STAC3)

IDC10 Code = Q87.19  Genomic coordinate (human 12:112,418,351 PTPN11). Cytoband (human 12q24.13 PTPN11). Intraband %= 25.9% PTPN11 OMIM’ genes@ 12q24.13 = 30 genes. Polymorphs = 1,328 PTPN11 variants in ClinVar. Hyperbolic Umbilic Chromosome-12 is 1,200 genes  Chromosome-12 Cytobands: WG2B2GC_CBG5B2G6 (12/29)   Here I 🎁 present: “Noonan Syndrome“, Victor McKusick, Mendelian Inheritance in Man’, 1966. INTRODUCTION. The … Continue reading “Noonan Syndrome”, Victor McKusick, Mendelian Inheritance in Man, 1966. (PTPN11)

Chromosome-12 Cytobands:WG2B2G C_CBG5B2G6 (12/29)   IDC10 Code = H18.5 Genomic coordinate (human 12:52,789,685 KRT3). Cytoband (human 12q13.13 KRT3). Intraband %=  49.7% KRT3 OMIM’ genes @ 12q13.13 = 31 genes. Polymorphs = 175 KRT3 variants in ClinVar Hyperbolic Umbilic Chromosome-12 is 1,200 genes. “Meesmann Corneal Dystrophy Type-2”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (KRT3) INTRODUCTION. In basal corneal … Continue reading “Meesmann Corneal Dystrophy Type-2”, Victor McKusick, Mendelian Inheritance in Man, 1966. (KRT3)

Genomic coordinate (human 12:46,000,001 HPV18I2). Cytoband (human 12q13 HPV18I2). OMIM’ genes @ 12q13 = 105 genes. Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Chromosome-12 Cytoband Structure = WG2B2GC_CBG5B2G6 Here I 🎁 present: “Human Papillomavirus-18 Integration Site”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (HPV18I2) The infographic details the genomic landscape of human Chromosome 12, focusing on … Continue reading “Human Papillomavirus-18 Integration Site”, Victor McKusick, Mendelian Inheritance in Man, 1966. (HPV18I2)

IDC10 Code = D17.9 Genomic Coordinate (human 12:65,824,460 HMGA2). Cytoband (human 12q14.3 HMGA2). Cytoband Class = 12q14.3 is Gray-color, medium-size band. Intraband %= 37.2% HMGA2 @ 12q14.3 Polymorphs = 51 HMGA2 variants in ClinVar. OMIM’ genes @ 12q14.3 = 32 genes.  Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Here I present: “HMGA2::LPP fusion in Lipoma”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (HMGA2) INTRODUCTION. … Continue reading “HMGA2::LPP fusion in Lipoma”, Victor McKusick, Mendelian Inheritance in Man, 1966. (HMGA2)