Tag: # Victor McKusick

IDC-10 Code = G12.8 Genomic coordinate (human 12:109,783,087 TRPV4). Cytoband (human 12q24.11 TRPV4). Intraband %= TRPV4  OMIM’ genes @ 12q24.11 = 34 genes. ClinVar = 1,336 TRPV4 variants reported. Hyperbolic Umbilic Chromosome-12 is 1,200 genes. 白灰₂黑₂灰縊_縊黑灰₅黑₂灰₆ Chromosome-12 Cytobands: WG2B2GC_CBG5B2G6  Here I present: “Scapuloperoneal Spinal Muscular Atrophy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (TRPV4) Scapuloperoneal spinal muscular atrophy … Continue reading “Scapuloperoneal Spinal Muscular Atrophy”, Victor McKusick, Mendelian Inheritance in Man, 1966. (TRPV4)

ICD-10 Code = Q87.5 Genomic coordinate (human 12:46,653,017 COL2A1). Cytoband (human 12q13.11 COL2A1). Intraband %= 24.2% COL2A1  OMIM’ genes @ 12q13.11 = 12 genes. ClinVar = 3,498 COL2A1 variants reported. Hyperbolic Umbilic Chromosome-12 is 1,200 genes. 白灰₂黑₂灰縊_縊黑灰₅黑₂灰₆ Chromosome-12 Cytobands: WG2B2GC_CBG5B2G6  Here I present: “Stickler Type-1 Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966 (COL2A1)­ INTRODUCTION. Stickler … Continue reading “Stickler Type-1 Syndrome”, Victor McKusick, Mendelian Inheritance in Man, 1966. (COL2A1)

IDC-10 Code = E76.22 Enzyme Commission Number = EC# 3.1.6.14 Genomic coordinate (human 12:64,713,449 GNS). Cytoband (human 12q14.3 GNS). Intraband %= 43.8% GNS OMIM’ genes @ 12q14.3 = 32 genes. ClinVar = 846 GNS variants reported. Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Chromosome-12 Cytobands: WG2B2GC_CBG5B2G6  白灰₂黑₂灰縊_縊黑灰₅黑₂灰₆   Here I  🎁 present: “Sanfilippo Type-D Syndrome”, Victor McKusick, … Continue reading “Sanfilippo Type-D Syndrome”, Victor McKusick, Mendelian Inheritance in Man, 1966.

  IDC10-Code = Q78.2 Genomic coordinate (human 7:192,571 FAM20C). Cytoband (human 7p22.3 FAM20C). Intraband %= 6.88% FAM20C OMIM’ genes @ 7p22.3 = 45 genes. ClinVar = 500 FAM20C variants reported, with 53 classified pathogenic. Parabolic Umbilic Chromosome-7 is 862 genes. Chromosome-7 Cytobands: WGB2G5C_CWGBG10 Here I  🎁 present:  “Raine Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (FAM20C) … Continue reading “Raine Syndrome”, Victor McKusick, Mendelian Inheritance in Man, 1966. (FAM20C)

IDC10 Code = E70.0 Enzyme Commission Number = 1.14.16.1 Genomic coordinate ( human 12:102,386,326 PAH). Cytoband (human 12q23.2 PAH). Intraband %= 51.6% PAH OMIM’ genes @ 12q23.2 = 38 genes. ClinVar = 3,300 PAH variants reported. Hyperbolic Umbilic Chromosome-12 is 1,200 genes. Chromosome-12 Cytobands: WG2B2GC_CBG5B2G6 (12/29) Here I present: “Phenylalanine Hydroxylase Deficiency”, Victor McK­usick, Mendelian Inheritance in … Continue reading “Phenylalanine Hydroxylase Deficiency”, Victor McKusick, Mendelian Inheritance in Man, 1966.