NM_000518.5:c.315+1G>A

HGVS Expressions

  • NG_059281.1:g.5496G>A
  • NM_000518.5:c.315+1G>A
  • NC_000011.10:g.5226576C>T

Associated Genes

Hemoglobin - Beta Locus
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Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

15438

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
603903.4United Arab Emirates10.029PathogenicBeta-ThalassemiaBaysal, 2005 Patient with sickle beta thalassemia. Pa...
613985.10.1Iraq1NAPathogenicBeta-ThalassemiaDeutsch et al. 1999 Proband (patient #3444 in the publicatio...
613985.10.2Iraq1NAPathogenicBeta-ThalassemiaDeutsch et al. 1999 Son of Proband (patient #5829 in the pub...
613985.10.3Iraq1NAPathogenicBeta-ThalassemiaDeutsch et al. 1999 Brother of proband (patient #5825 in the...
613985.10.4Iraq1NAPathogenicBeta-ThalassemiaDeutsch et al. 1999 Niece of proband (patient #5937 in the p...
613985.10.5Iraq1NAPathogenicBeta-ThalassemiaDeutsch et al. 1999 Nephew of proband (patient #5939 in the ...
613985.11Kuwait2PathogenicBeta-ThalassemiaAdekile et al. 2005 Patient from 'family 1' in the publication
613985.12Kuwait2PathogenicBeta-ThalassemiaAdekile et al. 2005 Patient from 'family 3' in the publication
613985.13Kuwait2PathogenicBeta-ThalassemiaAdekile et al. 2005 Patient from 'family 4' in the publication
613985.18Iraq1PathogenicBeta-ThalassemiaAdekile et al. 2005 Patient from 'family 12' in the publication
613985.30United Arab Emirates10.029PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
613985.44United Arab Emirates1<0.104PathogenicBeta-ThalassemiaBaysal, 2005 Patient with β-thalassemia. Patient was ...
603903.G.3.1Arab; United Arab Emirate...NANAPathogenicBeta-ThalassemiaEl-Kalla and Baysal, 1998 Mutations identified in 29 patients with...
613985.G.1.1Lebanon90.082PathogenicBeta-ThalassemiaZahed et al, 1997 Unknown number of patients with beta-zer...
613985.G.2.1Saudi ArabiaNAPathogenicBeta-Thalassemiael-Hazmi et al, 1995 Beta-thalassemia mutations observed in 7...
613985.G.2.2JordanNAPathogenicBeta-Thalassemiael-Hazmi et al, 1995 Beta-thalassemia mutations observed in 2...
613985.G.2.3EgyptNAPathogenicBeta-Thalassemiael-Hazmi et al, 1995 Beta-thalassemia mutations observed in 3...
613985.G.2.4SyriaNAPathogenicBeta-Thalassemiael-Hazmi et al, 1995 Beta-thalassemia mutations observed in 3...
613985.G.2.5LebanonNAPathogenicBeta-Thalassemiael-Hazmi et al, 1995 Beta-thalassemia mutations observed in 2...
613985.G.2.6YemenNAPathogenicBeta-Thalassemiael-Hazmi et al, 1995 Beta-thalassemia mutations observed in 1...
613985.G.3.2Lebanon450.086PathogenicBeta-ThalassemiaMakhoul et al. 2005 Patients with beta-zero-thalassemia from...
613985.G.5Bahrain6.1PathogenicBeta-ThalassemiaJassim et al. 1998 Mutations identified in a study group of...
613985.G.6ComorosPathogenicBeta-ThalassemiaBadens et al. 2000 Mutations identified in β-thalassaemic h...
613985.G.7Iraq18.3Likely PathogenicBeta-ThalassemiaAl-Allawi et al. 2006 Mutations identified in parents of β-tha...
613985.G.8Iraq25.2Likely PathogenicBeta-ThalassemiaJalal et al. 2010 Mutations identified in 123 β-thalassaem...
613985.G.9.1KuwaitLikely Pathogenic,PathogenicBeta-ThalassemiaAdekile et al. 1994 Mutations identified in 41 unrelated Kuw...
613985.G.9.4Lebanon1Likely Pathogenic,PathogenicBeta-ThalassemiaAdekile et al. 1994 Mutations identified in an Lebanese fami...
613985.G.10Kuwait4PathogenicBeta-ThalassemiaAdekile et al. 2005 2 patient from 'family 2' in the publica...
613985.G.12Kuwait2PathogenicBeta-ThalassemiaAdekile et al. 2005 2 patient from 'family 10' in the public...
613985.G.15.1Oman7PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in Omani β-thalassa...
613985.G.16United Arab Emirates9NALikely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1997 Mutations identified in 137 Emirati β-th...
613985.G.17.3United Arab Emirates60.032Likely PathogenicBeta-ThalassemiaEl-Kalla and Mathews, 1993 Mutations identified in 34 β-thalassaemi...
613985.G.18United Arab Emirates30.06Likely PathogenicBeta-ThalassemiaQuaife et al. 1994 Mutations identified in 27 families comp...
613985.G.21.8United Arab Emirates40.016PathogenicBeta-ThalassemiaBaysal, 2001 2 β-thalassaemia patients
613985.G.22.1United Arab Emirates80.029PathogenicBeta-ThalassemiaBaysal, 2005 Homozygous β-thalassemia mutations repor...
613985.G.22.5United Arab Emirates40.029PathogenicBeta-ThalassemiaBaysal, 2005 4 patients with β-thalassemia. All patie...
613985.G.22.7United Arab Emirates30.029Likely PathogenicBeta-ThalassemiaBaysal, 2005 3 patients with β-thalassemia. All patie...
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