NM_130768.3:c.614G>T

HGVS Expressions

  • NM_130768.3:c.614G>T
  • NP_570124.1:p.Gly205Val
  • NC_000007.14:g.117384799C>A
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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
258150.3Saudi Arabia2Likely PathogenicSpermatogenic Failure 1Alhathal et al. 2020
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