NM_003982.4:c.1034C>G

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  2. NM_003982.4:c.1034C>G

HGVS Expressions

  • NG_012851.2:g.59316C>G
  • NM_003982.4:c.1034C>G
  • NP_001119577.1:p.Pro345Arg
  • NC_000014.9:g.22775505G>C

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

1417051927

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
222700.5Jordan2Likely PathogenicLysinuric Protein IntoleranceBen-Rebeh et al. 2012
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Contributors

  • Sayeeda Hana: 24.05.2021

Edit History

  • Rahila Mir: 10.02.2022
  • Sayeeda Hana: 24.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.