NM_144668.6:c.123del

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  2. NM_144668.6:c.123del

HGVS Expressions

  • NG_021364.1:g.7872del
  • NM_144668.6:c.123del
  • NP_653269.3:p.Asp42fs
  • NC_000012.12:g.121921428del

Associated Genes

WD Repeat-Containing Protein 66
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

749163856

Clinvar

548450

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
618152.1.1Lebanon2PathogenicSpermatogenic Failure 33Auguste et al. 2018 Has four other affected and four unaffec...
618152.1.2Lebanon2PathogenicSpermatogenic Failure 33Auguste et al. 2018 Sibling of 618152.1.1
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Contributors

  • Pratibha Nair: 13.01.2021

Edit History

  • Pratibha Nair: 13.01.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.