Category: Chromosome

Genomic coordinate (human 14:20,455,226 APEX1). Cytoband (human 14q11.2 APEX1 white-color). OMIM’ genes @ 14q11.2 = 25 genes. Butterfly 🦋 chromosome-14 consists of 599 genes. ClinVar = 37 APEX1 variants reported. PANTHER Classification is (PTHR22748) DNA-(apurinic site) endonuclease. Cytoband Structure:  WCWCCBG2BG4B2G2 ⠺⠉⠺⠉⠉⠃⠛⠼⠃⠃⠛⠼⠙⠃⠼⠃ ⠛⠼⠃ Here I present: “APEX Nuclease”, Victor McKusick, Mendelian Inheritance in Man’, 1966. APEX1 INTRODUCTION. APEX … Continue reading “APEX Nuclease”, Victor McKusick, Mendelian Inheritance in Man, 1966. APEX1

ICD10 Code E83.01 Genomic coordinate (human 13:51,932,669 ATP7B). Cytoband (human 13q14.3 ATP7B). OMIM’ genes @ 13q14.3 = 20 genes. PANTHER Classification of ATP7B is P-type ATPase (PC00018) Cation-transporting ATPase  ClinVar = 4,489 ATP7B variants reported, 3,283 are Wilson disease variants. Cytoband Structure: WCWCCWG6BGBGB2GB2  ⠺ ⠉ ⠺ ⠉ ⠉ ⠺ ⠛⠼⠋ ⠃ ⠛ ⠃ ⠛ ⠃⠼⠃ ⠛ ⠃⠼⠃   … Continue reading “Wilson Disease: Hepatolenticular Degeneration”, Victor McKusick, Mendelian Inheritance in Man, 1966. ATP7B

  ICD10 Code = Q82.8 沃溫克爾症候群 Genomic coordinate (human 13:20,187,470 GJB2). Cytoband (human 13q12.11 GJB2). OMIM’ genes @ 13q12.11 = 22 genes. ClinVar = 524 GJB2 variants reported. PANTHER Classification is PTHR11227. Cytoband Structure: WCWCCWG6BGBGB2GB2  ⠺ ⠉ ⠺ ⠉ ⠉ ⠺ ⠛⠼⠋ ⠃ ⠛ ⠃ ⠛ ⠃⠼⠃ ⠛ ⠃⠼⠃ Here I 🎁 present: “Vohwinkel Syndrome”, Victor … Continue reading “Vohwinkel Syndrome”, Victor McKusick, Mendelian Inheritance in Man, 1966.

ICD10 Code = G90.81 血清素受體 Genomic coordinate (human 13:46,831,546 HTR2A). Cytoband (human 13q14.2 HTR2A). OMIM’ genes @ 13q14.2 = 18 genes. ClinVar = 72 HTR2A variants reported, 44 pathogenic. PANTHER Classification is G-protein coupled receptor (PC00021) & Transmembrane signal receptor (PC00197). CytobandStructure :  WCWCCWG6BGBGB2GB2  ⠺ ⠉ ⠺ ⠉ ⠉ ⠺ ⠛⠼⠋ ⠃ ⠛ ⠃ ⠛ ⠃⠼⠃ ⠛ … Continue reading “Serotonin Receptor”, Victor McKusick, Mendelian Inheritance in Man, 1966. (HTR2A)

Continue reading ““Spinocerebellar Ataxia Type-8”, Victor McKusick, Mendelian Inheritance in Man, 1966. (SCA8)”