NM_003982.4:c.499+1G>C

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HGVS Expressions

  • NG_012851.2:g.21922G>C
  • NM_003982.4:c.499+1G>C
  • NP_003973.3:p.?
  • NC_000014.9:g.22812899C>G

Associated Genes

Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 7
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

386833817

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
222700.4United Arab Emirates2Likely PathogenicLysinuric Protein IntoleranceBen-Rebeh et al. 2012
222700.G.1United Arab EmiratesLysinuric Protein IntoleranceAl-Shamsi et al. 2014 Mutations reported in unknown number of ...
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Contributors

    Edit History

    • Pratibha Nair: 09.01.2023
    • Pratibha Nair: 28.11.2022
    • Pratibha Nair: 23.08.2022
    • Sayeeda Hana: 24.05.2021
    • Asha Deepthi: 13.08.2020
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    © CAGS 2024. All rights reserved.