NM_000791.4:c.86+59_86+60insACCTGGGCGGGACGCGCCA

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HGVS Expressions

  • NG_023304.1:g.5637_5638insACCTGGGCGGGACGCGCCA
  • NM_000791.4:c.86+59_86+60insACCTGGGCGGGACGCGCCA
  • NP_000782.1:p.?
  • NC_000005.10:g.80654344_80654345insTGGCGCGTCCCGCCCAGGT

Associated Genes

Dihydrofolate Reductase
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Risk factor

Variant Type

Insertion

dbSNP

70991108

Clinvar

157590

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612716.2.1Egypt1Risk factorDystonia, Dopa-Responsive, Due to Sepiapterin Reductase DeficiencyShalash et al. 2017 Authors noted that the "SPR mutation can...
612716.2.2Egypt1Risk factorDystonia, Dopa-Responsive, Due to Sepiapterin Reductase DeficiencyShalash et al. 2017 Sister of 612716.2.1 Authors noted tha...
612716.2.3Egypt1Risk factorDystonia, Dopa-Responsive, Due to Sepiapterin Reductase DeficiencyShalash et al. 2017 Brother of 612716.2.1 Authors noted th...
612716.2.4Egypt1Risk factorDystonia, Dopa-Responsive, Due to Sepiapterin Reductase DeficiencyShalash et al. 2017 Daughter of 612716.2.1 Authors noted t...
612716.2.5Egypt1Risk factorDystonia, Dopa-Responsive, Due to Sepiapterin Reductase DeficiencyShalash et al. 2017 Son of 612716.2.1 Authors noted that t...
612716.2.7Egypt1Shalash et al. 2017 Brother of 612716.2.1
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Contributors

  • Sayeeda Hana: 03.02.2025

Edit History

  • Sayeeda Hana: 05.02.2025
  • Sayeeda Hana: 03.02.2025
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© CAGS 2025. All rights reserved.