NM_173076.3:c.2785C>T

HGVS Expressions

  • NG_007074.1:g.141792C>T
  • NM_173076.3:c.2785C>T
  • NP_775099.2:p.Arg929Cys
  • NC_000002.12:g.215001636G>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
601277.1.1United Arab Emirates1Likely PathogenicIchthyosis, Congenital, Autosomal Recessive 4ABastaki et al. 2017 The patient had two paternal aunts with ...
601277.1.2United Arab Emirates1Likely PathogenicIchthyosis, Congenital, Autosomal Recessive 4ABastaki et al. 2017 Brother of 61277.1.1
601277.1.3United Arab Emirates1Bastaki et al. 2017 Father of 601777.1.1
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