NM_001360016.2:c.202G>A

HGVS Expressions

  • NG_009015.2:g.16571G>A
  • NM_001360016.2:c.202G>A
  • NP_001346945.1:p.Val68Met
  • NC_000023.11:g.154536002C>T
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1050828

Clinvar

37123

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300908.8United Arab Emirates1PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyAbdulrazzaq et al. 1999
300908.G.11.3United Arab Emirates12+PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyAmro et al. 2014 Group of 12 Emirati subjects
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