NM_004614.5:c.191C>T

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  2. NM_004614.5:c.191C>T

HGVS Expressions

  • NG_016862.1:g.13494C>T
  • NM_004614.5:c.191C>T
  • NP_004605.4:p.Thr64Met
  • NC_000016.10:g.66541919G>A

Associated Genes

Thymidine Kinase, Mitochondrial
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

281865487

Clinvar

38979

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
602998.1Saudi Arabia2Uncertain SignificanceAlazami et al. 2015 Unsolved case
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Contributors

  • Pratibha Nair: 25.10.2023

Edit History

  • Pratibha Nair: 25.10.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.