NM_001360.2:c.1055G>A

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  2. NM_001360.2:c.1055G>A

HGVS Expressions

  • NG_012655.2:g.17684G>A
  • NM_001360.2:c.1055G>A
  • NP_001351.2:p.Arg352Gln

Associated Genes

7-Dehydrocholesterol Reductase
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Genomic Location

chr11:71435748

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121909768

Clinvar

6795

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
270400.3.1Saudi Arabia2PathogenicSmith-Lemli-Opitz SyndromeAl-Owain et al. 2012
270400.3.2Saudi Arabia2PathogenicSmith-Lemli-Opitz SyndromeAl-Owain et al. 2012 Brother of 270400.3.1
270400.3.3Saudi Arabia2PathogenicSmith-Lemli-Opitz SyndromeAl-Owain et al. 2012 Sister of 270400.3.1
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Contributors

  • Sayeeda Hana: 02.04.2020

Edit History

  • Sayeeda Hana: 03.04.2020
  • Sayeeda Hana: 02.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.