NM_173076.2:c.2486dup

HGVS Expressions

  • NG_007074.1:g.135595dup
  • NM_173076.2:c.2486dup
  • NP_775099.2:p.Arg830GlufsTer16
  • NC_000002.12:g.215007833dup
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
242500.1.1United Arab Emirates2Likely PathogenicIchthyosis Congenita, Harlequin Fetus TypeBastaki et al. 2017
242500.1.2United Arab Emirates1Bastaki et al. 2017 Father of 242500.1.1
242500.1.3United Arab Emirates1Bastaki et al. 2017 Mother of 242500.1.1
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