Mediterranean NM_001360016.2:c.563C>T

HGVS Expressions

  • NG_009015.2:g.18154C>T
  • NM_001360016.2:c.563C>T
  • NP_001346945.1:p.Ser188Phe
  • NC_000023.11:g.154534419G>A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

5030868

Clinvar

100057

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300908.1.2Oman1PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyDaar et al. 1996
300908.2Lebanon1Likely PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyJalkh et al. 2019
300908.3Lebanon1PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyKurdi-Haidar et al. 1990
300908.4Jordan1PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyKurdi-Haidar et al. 1990
300908.5Oman1PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyKurdi-Haidar et al. 1990
300908.10.1United Arab Emirates1PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyMaloukh et al. 2021 Proband
300908.10.2United Arab Emirates1Maloukh et al. 2021 Spouse of 300908.10.1
300908.12United Arab Emirates1PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyMahfouz et al. 2020 In addition to the G6PD variant, the pat...
300908.10.GUnited Arab Emirates6PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyMaloukh et al. 2021 3 daughters of 300908.10.1 and 300908.10...
300908.G.1Oman; United Arab Emirate...10PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyBayoumi et al. 1996 Group of 10 UAE nationals (1 bedouin, 4 ...
300908.G.4Oman19PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyDaar et al. 1996 17 patients including 2 homozygous femal...
300908.G.6.1United Arab Emirates84PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyAbdulrazzaq et al. 1999 Group of 26 families with 10 homozygous ...
300908.G.6.2United Arab Emirates17Abdulrazzaq et al. 1999 Group of 26 families with 17 unaffected ...
300908.G.7Iraq3PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyKurdi-Haidar et al. 1990 Group of 3 Iraqi patients
300908.G.8Saudi Arabia9PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyKurdi-Haidar et al. 1990 Group of 9 Saudi Arabian patients
300908.G.9.1United Arab Emirates2PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyMaloukh et al. 2021 Two affected brothers
300908.G.9.2United Arab Emirates3Maloukh et al. 2021 G6PD carriers. Mother and two sisters of...
300908.G.10.1Egypt4Maloukh et al. 2021 Four carriers (great grandmother, grandm...
300908.G.10.2Egypt2PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyMaloukh et al. 2021 Proband brother of the 4th generation da...
300908.G.11.1United Arab Emirates113+PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyAmro et al. 2014 Group of 113 Emirati subjects
300908.G.12United Arab Emirates514PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyVarghese et al. 2021 514 Emiratis (Male and Female) out of 44...
300908.G.14United Arab Emirates60PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyVarghese et al. 2021 30 Emiratis females out of 4410 newborns...
300908.G.16United Arab Emirates8PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyVarghese et al. 2021 8 Emirati females out of 4410 newborns s...
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