NM_000784.4:c.808C>T

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  2. NM_000784.4:c.808C>T

HGVS Expressions

  • NG_007959.1:g.35965C>T
  • NM_000784.4:c.808C>T
  • NP_000775.1:p.Arg270Ter
  • NC_000002.12:g.218812713C>T

Associated Genes

Cytochrome P450, Subfamily XXVIIA, Polypeptide 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

72551318

Clinvar

65902

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606530.1Qatar10.004PathogenicDevadoss Gandhi et al. 2024 1 individual from a study of 14,060 Qata...
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Contributors

  • Sayeeda Hana: 27.11.2024

Edit History

  • Sayeeda Hana: 27.11.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.