NM_000048.4:c.332G>A

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HGVS Expressions

  • NG_009288.1:g.12132G>A
  • NM_000048.4:c.332G>A
  • NP_000039.2:p.Arg111Gln
  • NC_000007.14:g.66082920G>A

Associated Genes

Argininosuccinate Lyase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Uncertain Significance

Variant Type

Substitution

dbSNP

561367199

Clinvar

288770

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
207900.14United Arab Emirates2Likely PathogenicArgininosuccinic AciduriaSaleh et al. 2021
207900.15United Arab Emirates2Likely PathogenicArgininosuccinic AciduriaSaleh et al. 2021 Similarly affected siblings
207900.G.3United Arab Emirates2NAUncertain SignificanceArgininosuccinic AciduriaAl-Shamsi et al. 2014 Unknown number of patients
207900.G.4United Arab Emirates4NALikely PathogenicArgininosuccinic AciduriaAl-Jasmi at al. 2016; Saleh et al. 2021 Two patients from two separate tribes
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Contributors

  • Pratibha Nair: 07.01.2022

Edit History

  • Pratibha Nair: 22.11.2022
  • Pratibha Nair: 07.01.2022
  • Asha Deepthi: 13.06.2021
  • Asha Deepthi: 04.03.2021
  • Asha Deepthi: 21.02.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.