NM_005957.4:c.1298A>C

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  2. NM_005957.4:c.1298A>C

HGVS Expressions

  • NG_013351.1:g.16697A>C
  • NM_005957.4:c.1298A>C
  • NP_005948.3:p.Glu433Ala

Associated Genes

5,10-Methylenetetrahydrofolate Reductase
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Genomic Location

chr1:11794407

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

397507444

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
147820.1Lebanon2Likely PathogenicInternal Carotid Artery, Spontaneous Dissection ofEstaitieh and Sawaya 2015
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Contributors

  • Pratibha Nair: 07.05.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 07.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.