NM_001360.2:c.861C>A

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HGVS Expressions

  • NG_012655.2:g.15518C>A
  • NM_001360.2:c.861C>A
  • NP_001351.2:p.Asn287Lys

Associated Genes

7-Dehydrocholesterol Reductase
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Genomic Location

chr11:71437914

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

766495775

Clinvar

558708

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
270400.2.1Saudi Arabia2PathogenicSmith-Lemli-Opitz SyndromeAl-Owain et al. 2012
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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.