NM_000348.4:c.354C>A

HGVS Expressions

  • NG_008365.1:g.52278C>A
  • NM_000348.4:c.354C>A
  • NP_000339.2:p.Phe118Leu
  • NC_000002.12:g.31533694G>T
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Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
264600.1United Arab Emirates2Likely PathogenicPseudovaginal Perineoscrotal HypospadiasAlabdullatif et al. 2017 Similarly affected brother
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