NM_001360.2:c.1400C>T

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  2. NM_001360.2:c.1400C>T

HGVS Expressions

  • NG_012655.2:g.18029C>T
  • NM_001360.2:c.1400C>T
  • NP_001351.2:p.Pro467Leu

Associated Genes

7-Dehydrocholesterol Reductase
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Genomic Location

chr11:71435403

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
270400.1.1Lebanon2PathogenicSmith-Lemli-Opitz SyndromeNezarati et al, 2002 Proband. (Parents were of Lebanese and S...
270400.1.2Lebanon2PathogenicSmith-Lemli-Opitz SyndromeNezarati et al, 2002 Sister of 270400.1.1
270400.1.3Lebanon1PathogenicNezarati et al, 2002 Unaffected father of 270400.1.1
270400.1.4Lebanon1PathogenicNezarati et al, 2002 Unaffected mother of 270400.1.1
270400.1.5Lebanon1PathogenicNezarati et al, 2002 Unaffected brother of 270400.1.1
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Contributors

  • Sayeeda Hana: 02.04.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 02.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.