NM_173076.3:c.6900C>A

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  2. NM_173076.3:c.6900C>A

HGVS Expressions

  • NG_007074.1:g.194326C>A
  • NM_173076.3:c.6900C>A
  • NP_775099.2:p.Phe2300Leu

Associated Genes

ATP-Binding Cassette, Subfamily A, Member 12
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Genomic Location

chr2:214949102

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601277.2.1Saudi Arabia2PathogenicIchthyosis, Congenital, Autosomal Recessive 4AWakil et al. 2016 Index patient
601277.2.2Saudi Arabia1Wakil et al. 2016 Father of 601277.2.1
601277.2.3Saudi Arabia1Wakil et al. 2016 Mother of 601277.2.1
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Contributors

  • Sayeeda Hana: 31.08.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 31.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.