Chatham NM_001360016.2:c.1003G>A

HGVS Expressions

  • NG_009015.2:g.19583G>A
  • NM_001360016.2:c.1003G>A
  • NP_001346945.1:p.Ala335Thr
  • NC_000023.11:g.154532990C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

5030869

Clinvar

10363

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300908.11United Arab Emirates1PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyAmro et al. 2014
300908.G.5Oman3PathogenicAnemia, Nonspherocytic Hemolytic, due to G6PD DeficiencyDaar et al. 1996 Group of 3 Omani males
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