NM_018129.4:c.674G>T

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HGVS Expressions

  • NG_008744.1:g.10148G>T
  • NM_018129.4:c.674G>T
  • NP_060599.1:p.Arg225Leu
  • NC_000017.11:g.47946670G>T

Associated Genes

Pyridoxamine 5-Prime-Phosphate Oxidase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

550423482

Clinvar

206451

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610090.1.1United Arab Emirates2PathogenicPyridoxamine 5-Prime-Phosphate Oxidase DeficiencyFathalla et al. 2018
610090.1.2United Arab Emirates2PathogenicPyridoxamine 5-Prime-Phosphate Oxidase DeficiencyFathalla et al. 2018 Sister of 610090.1.1
610090.2United Arab Emirates2PathogenicPyridoxamine 5-Prime-Phosphate Oxidase DeficiencyFathalla et al. 2018 Patient had a brother with intractable e...
610090.3United Arab Emirates2PathogenicPyridoxamine 5-Prime-Phosphate Oxidase DeficiencyFathalla et al. 2018 Belongs to the same tribe as 610090.1.1
610090.4United Arab Emirates2PathogenicPyridoxamine 5-Prime-Phosphate Oxidase DeficiencyFathalla et al. 2018 Belongs to the same tribe as 610090.1.1
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Contributors

  • Sayeeda Hana: 12.10.2021

Edit History

  • Pratibha Nair: 10.11.2022
  • Sayeeda Hana: 12.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.