NM_018068.5:c.727_729del

HGVS Expressions

  • NM_018068.5:c.727_729del
  • NP_060538.2:p.Tyr243del
  • NC_000008.11:g.22284256_22284258del
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
258150.18Saudi Arabia2Likely PathogenicSpermatogenic Failure 1Alhathal et al. 2020
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