NM_020312.4:c.362T>C

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HGVS Expressions

  • NG_027696.1:g.10496T>C
  • NM_020312.4:c.362T>C
  • NP_064708.1:p.Ile121Thr
  • NC_000016.10:g.57452920T>C

Associated Genes

Coenzyme 9
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

547254482

Clinvar

214245

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615356.1United Arab Emirates2Likely BenignAl-Shamsi et al. 2016
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Contributors

  • Pratibha Nair: 21.07.2020

Edit History

  • Sayeeda Hana: 27.11.2022
  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 21.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.