NM_025243.4:c.1264A>G

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HGVS Expressions

  • NG_016359.1:g.34814A>G
  • NM_025243.4:c.1264A>G
  • NP_079519.1:p.Thr422Ala
  • NC_000002.12:g.227688216T>C

Associated Genes

Solute Carrier Family 19 (Thiamine Transporter), Member 3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121917884

Clinvar

4563

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606152.G.1Qatar240.084PathogenicDevadoss Gandhi et al. 2024 24 individuals from a study of 14,060 Qa...
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Contributors

  • Sayeeda Hana: 21.01.2025

Edit History

  • Sayeeda Hana: 21.01.2025
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© CAGS 2025. All rights reserved.
© CAGS 2025. All rights reserved.