Author: twinkl22004

IDC10 Code = H90.5 Genomic coordinate (human 13:20,187,470 GJB2 & 13:20,221,962 GJB6). Cytoband (human 13q12.11 GJB2 & GJB6). OMIM’ genes @ 13q12.11 = 3 genes. ClinVar = 644 GJB2 variants & 327 GJB6 variants reported. PANTHER Classification of “connexins 26 & 30” is PTHR11984:SF46 & SF23. Here I present: “13q12.11 Autosomal Deafness”, Victor McKusick, Mendelian Inheritance in … Continue reading “13q12.11 Autosomal Deafness”, Victor McKusick, Mendelian Inheritance in Man, 1966. (GJB2/6)

  Genomic coordinate (human 13:27,920,001 IPF1). Cytoband (human 13q12.2 IPF1). OMIM’ genes @ 13q12.2 = 6 genes. ClinVar = 350 IPF1 variants reported. PANTHER Classification is “transcription factor” PC00218. Swallowtail chromosome-13 is 308 genes. Chromosome-13 Cytobands: WCWCCWG6BGBGB2GB2  ⠺ ⠉ ⠺ ⠉ ⠉ ⠺ ⠛⠼⠋ ⠃ ⠛ ⠃ ⠛ ⠃⠼⠃ ⠛ ⠃⠼⠃ Here I present: “Pancreatic Agenesis”, Victor McKusick, Mendelian Inheritance in … Continue reading “Pancreatic Agenesis”, Victor McKusick, Mendelian Inheritance in Man, 1966. (PDX1)

Genomic coordinate (human 13:48,233,206 ITM2B). Cytoband (human 13q14.2 ITM2B). OMIM’ genes @ 13q14.2 = 18 genes. ClinVar = 79 ITM2B variants reported. PANTHER Classification is PTHR10962 “unclassified”. “Integral Membrane Protein-2B“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ITM2B) INTRODUCTION. ITM2B (Integral membrane protein-2B) is a human gene located on cytoband 13q14.2 that encodes a transmembrane protein … Continue reading “Integral Membrane Protein-2B”, Victor McKusick, Mendelian Inheritance in Man, 1966. (ITM2B)

IDC1O Code = Q12.0 Genomic coordinate (human 13:20,138,255 GJA3). Cytoband (human 13q12.11 GJA3). OMIM’ genes @ 13q12.11 = 3 genes. Intraband %= 33.5% GJA3  Cytoband Position (0.2 = human 13q12.11). GJA3 (gap junction alpha-3) is classified as PTHR11984 “Connexin” in PANTHER. ClinVar =  270 GJA3 variants reported, 75 pathogenic. Swallowtail chromosome-13 is 308 genes. Chromosome-13 Cytobands: WCWCCWG6BGBGB2GB2  ⠺ ⠉ ⠺ ⠉ … Continue reading “Multiple Cataract Types”, Victor McKusick, Mendelian Inheritance in Man, 1966. GJA3

IDC1O Code = D68.2 Genomic coordinate (human 13:113,105,791 F7 & 13:113,122,799 F10). Cytoband (human 13q34 F7&F10). OMIM’ genes @ 13q34 = 16 genes. F7&F10 are classified as “Protease” PC00190 in PANTHER. ClinVar = 351 F7 & 135 F10 variants reported. Swallowtail chromosome-13 is 308 genes. Chromosome-13 Cytobands: WCWCCWG6BGBGB2GB2 ⠺ ⠉ ⠺ ⠉ ⠉ ⠺ ⠛⠼⠋ ⠃ ⠛ ⠃ ⠛ … Continue reading “F7-and-F10 Coagulation Locus 13q34”, Victor McKusick, Mendelian Inheritance in Man, 1966. (F7&F10)