NM_001136505.2:c.733G>A

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  2. NM_001136505.2:c.733G>A

HGVS Expressions

  • NM_001136505.2:c.733G>A
  • NP_001129977.1:p.Gly245Arg
  • NC_000016.10:g.66778983C>T

Associated Genes

Telomere Repeat-Binding Bouquet Formation Protein 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

766256171

Clinvar

1328957

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619646.G.1Saudi Arabia4Likely PathogenicSpermatogenic Failure 60Alhathal et al. 2020 2 unrelated Saudi patients
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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.