NM_006996.3:c.581C>T

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HGVS Expressions

  • NG_008255.1:g.13590C>T
  • NM_006996.3:c.581C>T
  • NP_008927.1:p.Ser194Phe

Associated Genes

Solute Carrier Family 19 (Thiamine Transporter), Member 2
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Genomic Location

chr1:169477381

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

141677505

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249270.4.1Saudi Arabia2Uncertain SignificanceThiamine-Responsive Megaloblastic Anemia SyndromePatel et al, 2018 Proband
249270.4.2Saudi Arabia2Uncertain SignificanceThiamine-Responsive Megaloblastic Anemia SyndromePatel et al, 2018 Sibling of 249270.4.1
249270.4.3Saudi Arabia2Uncertain SignificanceThiamine-Responsive Megaloblastic Anemia SyndromePatel et al, 2018 Sibling of 249270.4.1
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Contributors

  • Sayeeda Hana: 01.07.2020

Edit History

  • Rahila Mir: 22.02.2022
  • Sayeeda Hana: 08.01.2021
  • Sayeeda Hana: 01.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.