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
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Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

548450

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(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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