NM_005957.5:c.199C>T

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HGVS Expressions

  • NG_013351.1:g.8186C>T
  • NM_005957.5:c.199C>T
  • NP_005948.3:p.Pro67Ser
  • NC_000001.11:g.11802918G>A

Associated Genes

5,10-Methylenetetrahydrofolate Reductase
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1644422806

Clinvar

984697

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
236250.2.1Egypt2Likely PathogenicHomocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase ActivityReuter et al. 2017
236250.2.2Egypt2Likely PathogenicHomocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase ActivityReuter et al. 2017 Relative of 236250.2.2
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Contributors

  • Sayeeda Hana: 11.09.2024

Edit History

  • Sayeeda Hana: 24.09.2024
  • Sayeeda Hana: 11.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.