NM_001437.3:c.602G>T

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  2. NM_001437.3:c.602G>T

HGVS Expressions

  • NG_011535.1:g.74706G>T
  • NM_001437.3:c.602G>T
  • NP_001428.1:p.Cys201Phe
  • NC_000014.9:g.64268845C>A

Associated Genes

Estrogen Receptor 2
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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
258150.9Saudi Arabia2Likely PathogenicSpermatogenic Failure 1Alhathal et al. 2020
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Contributors

  • Pratibha Nair: 16.03.2023

Edit History

  • Pratibha Nair: 16.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.