Category: Chromosome

Genomic coordinate (human 12:10,907,926 TRB3). Cytoband (human 12p13.2 TRB3). Intraband%= 34.9% TRB3  OMIM’ genes @ 12p13.2 = 16 genes. ClinVar = 102 TRB3 variants reported, 8 clinically significant. Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Cytoband Position (0.1 = human 12p13.2). Chromosome-12 Cytobands: WG₂[TRB3]B₂GC_CBG₅B₂G₆   Here I  🎁 present: “TRB3-Taste Receptor Bitterness”, Victor McKusick, Mendelian Inheritance in Man’, 1966. … Continue reading “TRB3-Taste Receptor Bitterness”, Victor McKusick, Mendelian Inheritance in Man, 1966. (TRB3)

IDC10 Code = D11.9 Genomic coordinate (human 12:65,824,460 HMGA2 & mouse 10:120,197,180 Hmga2). Cytoband (human 12q14.3 HMGA2  & mouse 10d2 Hmga2). Intraband %= 67.9% HMGA2  OMIM’ genes @ 12q14.3 = 32 genes. ClinVar = 74 HMGA2 variants reported, and 17 pathogenic. Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Cytoband Position (0.5 =  human 12q14­.3 & 0.9 = mouse … Continue reading “Salivary Adenoma”, Victor McKusick, Mendelian Inheritance in Man, 1966. (HMGA2)

Genomic coordinate (human 12:57,745,039 TSPAN31 & mouse 10:126,903,149 Tspan31). Cytoband (human 12q14.1 TSPAN31 & mouse 10d1 Tspan31). Cytoband Position (0.5=human 12q14­.1 & 0.9=mouse 10d1 ). WG₂B₂GC_C[TSPAN31]BG₅B₂G₆ Chromosome-12 Cytobands: WG2B2GC_CBG5B2G6  WG₂B₂GC_C[TSPAN31]BG₅B₂G₆→ ⠠⠺⠛⠼⠃⠃⠛⠉⠸⠩⠉⠷⠞⠎⠏⠁⠝⠼⠳⠸⠪⠃⠛⠼⠑⠃⠼⠋ Chromosome-10 Cytobands: BGB4GBG Here I 🎁 present: “Sarcoma Amplified Sequence”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (TSPAN31) INTRODUCTION. The ABOVE scientific graphic shows, as the … Continue reading “Sarcoma Amplified Sequence”, Victor McKusick, Mendelian Inheritance in Man, 1966. (TSPAN31)

IDC-10 Code = C49.9 Genomic coordinate (human 12:50,763,459 ATF1 & mouse 15:100,125,729 Atf1). Cytoband (human 12q13.12 ATF1 & mouse 15f3 Atf1). Cytoband Position (0.4=human 12q13.12 & 1.0=mouse 15f3). Intraband %= 86% ATF1 human. OMIM’ genes @ 12q13.12 = 15 genes. ClinVar = 59 ATF1 variants, with 3 pathogenic. Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Chromosome-12 Cytobands: WG2B2GC_CBG5B2G6  Chromosome-15 Cytobands: BGBGBG4 … Continue reading “Clear Cell Sarcoma”, Victor McKusick, Mendelian Inheritance in Man, 1966. (ATF1)

Genomic coordinate (human 12:111,452,214 ATXN2). Cytoband (human 12q24.12 ATXN2). OMIM’ genes @ 12q24.12 = 32 genes. Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Here I present: “Spinocerebellar Ataxia”, Victor McKusick, Mendelian Inheritance in Ma­n’, 1966. (ATXN2) INTRODUCTION. In genetics, the ATXN2 gene contains a repeating sequence of three DNA building blocks: cytosine, adenine, and guanine (CAG … Continue reading “Spinocerebellar Ataxia”, Victor McKusick, Mendelian Inheritance in Man, 1966. (ATXN2)