NM_018129.4:c.674G>T

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
Back to search Result
Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

223153

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(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
© CAGS 2021. All rights reserved.