NM_018319.4:c.1459C>T

HGVS Expressions

  • NG_009164.1:g.42500C>T
  • NM_018319.4:c.1459C>T
  • NP_060789.2:p.Arg487Cys
  • NC_000014.9:g.89993401C>T
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607198.1Saudi Arabia2Likely PathogenicTDP1 Associated Male InfertilityAlhathal et al. 2020
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