HbS NM_000518.5:c.20A>T

HGVS Expressions

  • NG_059281.1:g.5070A>T
  • NM_000518.5:c.20A>T
  • NP_000509.1:p.Glu7Val
  • NC_000011.10:g.5227002T>A

Associated Genes

Hemoglobin - Beta Locus
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Clinvar Clinical Significance

Likely Benign, Pathogenic

CTGA Clinical Significance

Likely Benign, Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

334

Clinvar

15333

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
603903.1United Arab Emirates10.219PathogenicSickle Cell AnemiaBaysal, 2005 Patient with sickle beta thalassemia. Pa...
603903.2United Arab Emirates10.219PathogenicSickle Cell AnemiaBaysal, 2005 Patient with sickle beta thalassemia. Pa...
603903.3United Arab Emirates10.219PathogenicSickle Cell AnemiaBaysal, 2005 Patient with sickle beta thalassemia. Pa...
603903.4United Arab Emirates10.219PathogenicSickle Cell AnemiaBaysal, 2005 Patient with sickle beta thalassemia. Pa...
603903.5United Arab Emirates10.219PathogenicSickle Cell AnemiaBaysal, 2005 Patient with sickle beta thalassemia. Pa...
603903.6United Arab Emirates2PathogenicSickle Cell AnemiaChoi et al. 2018
603903.7United Arab Emirates2PathogenicSickle Cell AnemiaChoi et al. 2018
603903.8United Arab Emirates2PathogenicSickle Cell AnemiaChoi et al. 2018
604131.10Algeria2Likely BenignDahmane-Arbane et al. 1987 Propositus of an Algerian family
141749.G.1.1Saudi Arabia26PathogenicSickle Cell AnemiaMiller et al. 1987 13 patients with sickle cell anemia
141749.G.1.2Saudi Arabia6PathogenicSickle Cell AnemiaMiller et al. 1987 3 patients with sickle cell anemia
141749.G.1.3Saudi Arabia4PathogenicSickle Cell AnemiaMiller et al. 1987 4 individuals with sickle cell trait
141749.G.1.4Saudi Arabia9PathogenicSickle Cell AnemiaMiller et al. 1987 9 individuals with sickle cell trait
603903.G.1Bahrain2NALikely PathogenicSickle Cell AnemiaJassim and Al Arrayed, 2006 Two patients from two unrelated families...
603903.G.2.1United Arab Emirates1040.219PathogenicSickle Cell AnemiaBaysal, 2005 52 patients with sickle cell anemia.
603903.G.2.2United Arab Emirates170.219PathogenicSickle Cell AnemiaBaysal, 2005 17 patients with sickle beta thalassemia...
603903.G.2.3United Arab Emirates40.219PathogenicSickle Cell AnemiaBaysal, 2005 4 patients with sickle beta thalassemia....
603903.G.2.4United Arab Emirates30.219PathogenicSickle Cell AnemiaBaysal, 2005 3 patients with sickle cell disease. All...
603903.G.2.5United Arab Emirates20.219PathogenicSickle Cell AnemiaBaysal, 2005 2 patients with sickle beta thalassemia....
603903.G.2.6United Arab Emirates20.219PathogenicSickle Cell AnemiaBaysal, 2005 2 patients with sickle beta thalassemia....
603903.G.3.1Arab; United Arab Emirate...NANAPathogenicSickle Cell AnemiaEl-Kalla and Baysal, 1998 Mutations identified in 29 patients with...
603903.G.3.2United Arab EmiratesNANAPathogenicSickle Cell AnemiaEl-Kalla and Baysal, 1998 Patients from three families with Hb SD....
603903.G.3.3Arab; United Arab Emirate...50NAPathogenicSickle Cell AnemiaEl-Kalla and Baysal, 1998 25 patients with sickle cell anemia. Pat...
603903.G.3.4Arab; United Arab Emirate...12NAPathogenicSickle Cell AnemiaEl-Kalla and Baysal, 1998 Six patients with sickle cell anemia. Pa...
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