NM_005957.5:c.1596C>G

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  2. NM_005957.5:c.1596C>G

HGVS Expressions

  • NG_013351.1:g.18790C>G
  • NM_005957.5:c.1596C>G
  • NP_005948.3:p.Tyr532Ter
  • NC_000001.11:g.11792314G>C

Associated Genes

5,10-Methylenetetrahydrofolate Reductase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

776430173

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
236250.1United Arab Emirates2Likely PathogenicHomocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase ActivityAl-Shamsi et al. 2016
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Contributors

  • Pratibha Nair: 14.07.2020

Edit History

  • Pratibha Nair: 02.01.2023
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 14.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.