NM_014984.4:c.13C>T

HGVS Expressions

  • NM_014984.4:c.13C>T
  • NP_055799.2:p.Arg5Trp
  • NC_000017.11:g.81220044G>A

Associated Genes

Centrosomal Protein 131
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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
258150.5Saudi Arabia2Likely PathogenicSpermatogenic Failure 1Alhathal et al. 2020
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