NM_001360.2:c.1055G>T

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HGVS Expressions

  • NG_012655.2:g.17684G>T
  • NM_001360.2:c.1055G>T
  • NP_001351.2:p.Arg352Leu
  • NC_000011.10:g.71435748C>A

Associated Genes

7-Dehydrocholesterol Reductase
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121909768

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
270400.4.1Sudan2PathogenicSmith-Lemli-Opitz SyndromeAl-Owain et al. 2012
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Contributors

  • Sayeeda Hana: 02.04.2020

Edit History

  • Pratibha Nair: 21.11.2022
  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 03.04.2020
  • Sayeeda Hana: 02.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.