NM_005518.4:c.1124C>T

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  2. NM_005518.4:c.1124C>T

HGVS Expressions

  • NG_013348.1:g.18443C>G
  • NM_005518.4:c.1124C>T
  • NP_005509.1:p.Ser375Phe
  • NC_000001.11:g.119755490G>A

Associated Genes

3-Hydroxy-3-Methylglutaryl-CoA Synthase 2
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Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

151328418

Clinvar

292332

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
178500.2.1United Arab Emirates1BenignAlsamri et al. 2020; Alsamri et al. 2021
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Contributors

  • Pratibha Nair: 23.02.2022

Edit History

  • Pratibha Nair: 24.02.2022
  • Pratibha Nair: 23.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.