NM_018319.4:c.910C>T

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  2. NM_018319.4:c.910C>T

HGVS Expressions

  • NG_009164.1:g.33640C>T
  • NM_018319.4:c.910C>T
  • NP_060789.2:p.Arg304Ter
  • NC_000014.9:g.89984541C>T

Associated Genes

Tyrosyl-DNA Phosphodiesterase 1
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

370121773

Clinvar

1030645

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607198.2Saudi Arabia2Likely PathogenicTDP1 Associated Male InfertilityAlhathal et al. 2020
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Contributors

  • Pratibha Nair: 14.03.2023

Edit History

  • Pratibha Nair: 14.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.