All individuals with variants in gene HBB

7812 entries on 79 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

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Phenotype details     

Variants     

Panel size     

Owner     
00000025 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - 2 1 Global Variome, with Curator vacancy
00000035 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 Global Variome, with Curator vacancy
00000055 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 Global Variome, with Curator vacancy
00000066 - PubMed: Bell 2011 - - - - - - 0 - - - - 2 1 Global Variome, with Curator vacancy
00000068 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00012168 - Italy, Florence, Unit of Surgery, Department of Clinical Physiopathology and Institute of Anatomic Pathology, University of Florence - - - Italy - - - no (pedigree) - FAP-1 additional phenotype data available; colorectal phenotype classical 186 polyps; colectomy 23y 1 1 Stefan Aretz
00012210 - Japan, Tokyo, Department of Biochemistry, Cancer Institute - - - ? (unknown) - - - no (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00012247 - United Kingdom, Salisbury, Wessex Regional Genetics Laboratory, Salisbury District Hospital - - - United Kingdom (Great Britain) - - - no (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00012248 - United Kingdom, Salisbury, Wessex Regional Genetics Laboratory, Salisbury District Hospital - - - United Kingdom (Great Britain) - - - no (pedigree) - FAP-1 additional phenotype data available; colorectal phenotype severe thousands polyps 1 1 Stefan Aretz
00012249 - United Kingdom, Salisbury, Wessex Regional Genetics Laboratory, Salisbury District Hospital - - - United Kingdom (Great Britain) - - - no (pedigree) - FAP-1 additional phenotype data available; colorectal phenotype severe hundreds polyps 1 1 Stefan Aretz
00012250 - Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science - - - (Japan) - - - no (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00012251 - Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science - - - (Japan) - - - no (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00012252 - Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science - - - (Japan) - - - no (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00012253 - Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science - - - (Japan) - - - no (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00012254 - Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science - - - (Japan) - - - no (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00012255 - Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science - - - (Japan) - - - no (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00012256 - Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science - - - (Japan) - - - no (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00012257 - Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science - - - (Japan) - - - no (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00012258 - Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science - - - (Japan) - - - no (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00012259 - Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science - - - (Japan) - - - no (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00012260 - Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science - - - (Japan) - - - no (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00012261 - Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science - - - (Japan) - - - no (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00012262 - Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science - - - (Japan) - - - no (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00012264 - Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science - - - (Japan) - - - no (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00012265 - Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science - - - (Japan) - - - no (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00012467 - Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science - - - (Japan) - - - no (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00012493 - - - - - Germany - - - yes (pedigree) - FAP-1 additional phenotype data available; colorectal phenotype atypical, multiple polyps entire colon; colectomy 63y 1 1 Stefan Aretz
00012494 - Japan, Tokyo, Department of Biochemistry, The Tokyo Metropolitan Institute of Medical Science - - - (Japan) - - - no (pedigree) - FAP-1 additional phenotype data available 1 1 Stefan Aretz
00012496 - Japan, Tokyo, Department of Biochemistry, Cancer Institute - - - ? (unknown) - - - no (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00012518 - USA, Maryland, Baltimore, The John Hopkins Hereditary Colorectal Cancer Registry - F - United States - - - yes (pedigree) - FAP-1 no additional phenotype data available; colorectal phenotype attenuated 0 polyps 1 1 Stefan Aretz
00012527 - Switzerland, Basel, Human Genetics, Department of Research, University Clinics - F - Switzerland - - - no (pedigree) - FAP-1 additional phenotype data available; colorectal phenotype severe >1000 polyps; stomach and small intestinal polyps 1 1 Stefan Aretz
00012530 - USA, Houston, Department of Cancer Biology, University of Texas - - - United States - - - no (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00012540 - Japan, Tokyo, Department of Biochemistry, Cancer Institute - - - ? (unknown) - - - no (pedigree) - FAP-1 no additional phenotype data available 1 1 Stefan Aretz
00012545 - USA, Maryland, Baltimore, The John Hopkins Hereditary Colorectal Cancer Registry - F - United States - - - yes (pedigree) - FAP-1 additional phenotype data available; colorectal phenotype attenuated >100 polyps; duodenal polyps 1 1 Stefan Aretz
00012557 - - - - - (Germany) - - - ? - FAP-1 ? 1 1 Elke Holinski-Feder
00012571 - - - - - (Germany) - - - ? - FAP-1 ? 1 1 Elke Holinski-Feder
00012623 - - - - - (Germany) - - - ? - FAP-1 ? 1 1 Elke Holinski-Feder
00012658 - - - - - (Germany) - - - ? - FAP-1 ? 1 1 Elke Holinski-Feder
00012659 - - - - - (Germany) - - - ? - FAP-1 ? 1 1 Elke Holinski-Feder
00012662 - - - - - (Germany) - - - ? - FAP-1 ? 1 1 Elke Holinski-Feder
00012680 - López-Villar I. et al. - F - Spain - - - ? - FAP-1 ? 1 1 Isabel López Villar
00012708 - - - F - Germany - - - yes (pedigree) - FAP-1 no additional phenotype data available; colorectal phenotype classical, ? nr polyps 1 1 Stefan Aretz
00012711 - - - M - Germany - - - yes (pedigree) - FAP-1 additional phenotype data available; colectomy 36y 1 1 Stefan Aretz
00012785 - - - M - Germany - - - yes (pedigree) - FAP-1 additional phenotype data available; colorectal phenotype classical, expanded polyps entire colon; colon cancer 30/31y, Rectum; colectomy with Ileostoma 30y 1 1 Stefan Aretz
00012790 - - - M - Germany - - - yes (pedigree) - FAP-1 no dental anomalies; colorectal phenotype classical, ? nr polyps; no colon cancer ; colectomy 20y IPAA; esophago-gastro-duodenoscopy age 20y; duodenal phenotypemild 1 1 Stefan Aretz
00012807 - - - F - Germany - - - yes (pedigree) - FAP-1 additional phenotype data available; colorectal phenotype classical, multiple polyps distal accentuated; no colon cancer ; colectomy 24y IRA; esophago-gastro-duodenoscopy age 24/28y; duodenal phenotypenormal 1 1 Stefan Aretz
00035943 - - - - - Germany - - 0 - - Healthy/Control suspected ß-thalassemia 1 1 Andreas Laner
00035944 - - - - - Germany - - 0 - - Healthy/Control suspected ß-thalassemia 1 1 Andreas Laner
00035946 - - mother and sister F - Germany - - 0 - - Healthy/Control thalassemia minor; 2x colon cancer, 1x bone- and bloodcancer 1 1 Andreas Laner
00064795 - - - - - Germany Arab - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064796 - - - - - Germany Arab - 0 - - thal-beta ß0 phenotype 1 1 Andreas Laner
00064797 - - - - - Germany Arab - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064798 - - - - - Germany Arab - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064799 - - - - - Germany Arab - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064800 - - - - - Germany Arab - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064801 - - - - - Germany Arab - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064802 - - - - - Germany Arab - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064803 - - - - - Germany Arab - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064804 - - - - - Germany Arab - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064805 - - - - - Germany Arab - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064806 - - - - - Germany Arab - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064807 - - - - - Germany Arab - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064808 - - - - - Germany Arab - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064809 - - - - - Germany Arab - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064810 - - - - - Germany - - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064811 - - - - - Germany - - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064812 - - - - - Germany - - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064813 - - - - - Germany - - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064814 - - - - - ? (unknown) ? - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064815 - - - - - Germany - - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064816 - - - - - Germany Iranian - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064817 - - - - - Germany Iranian - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064818 - - - - - Germany Arab - 0 - - Healthy/Control - 1 1 Andreas Laner
00064819 - - - - - Germany Arab - 0 - - Healthy/Control - 1 1 Andreas Laner
00064820 - - - - - Germany Arab - 0 - - Healthy/Control - 1 1 Andreas Laner
00064821 - - - - - Germany Arab - 0 - - Healthy/Control - 1 1 Andreas Laner
00064822 - - - - - Germany Arab - 0 - - Healthy/Control - 1 1 Andreas Laner
00064823 - - - - - Germany - - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064824 - - - - - Germany Iranian - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064825 - - - - - Germany Iranian - 0 - - thal-beta - 1 1 Andreas Laner
00064826 - - - - - Germany Iranian - 0 - - thal-beta - 1 1 Andreas Laner
00064827 - - - - - Germany Iranian - 0 - - Healthy/Control - 1 1 Andreas Laner
00064828 - - - - - Germany Albanian - 0 - - Healthy/Control - 1 1 Andreas Laner
00064829 - - father thalassemia minor - - Germany Turkish - 0 - - Healthy/Control anemia 1 1 Andreas Laner
00064830 - - - - - Germany - - 0 - - Healthy/Control - 1 1 Andreas Laner
00064831 - - - - - Germany Mediterranean - 0 - - Healthy/Control anemia, 2 miscarriages 1 1 Andreas Laner
00064832 - - - - - Germany Arab - 0 - - Healthy/Control - 1 1 Andreas Laner
00064833 - - - - - Germany - - 0 - - Healthy/Control - 1 1 Andreas Laner
00064834 - - - - - Germany - - 0 - - Healthy/Control - 1 1 Andreas Laner
00064835 - - - - - Germany - - 0 - - Healthy/Control anemia, mikrozytäre 1 1 Andreas Laner
00064836 - - - - - Germany Iranian - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064837 - - - - - Germany Iranian - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064838 - - - - - Germany Iranian - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064839 - - - - - Germany Arab - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064840 - - - - - Germany Arab - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064841 - - - - - Germany Arab - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064842 - - - - - Germany Arab - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064843 - - - - - Germany Arab - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064844 - - - - - Germany - - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
00064845 - - - - - Germany - - 0 - - Healthy/Control ß0 phenotype 1 1 Andreas Laner
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