NM_000784.4:c.1420C>T

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  2. NM_000784.4:c.1420C>T

HGVS Expressions

  • NG_007959.1:g.37953C>T
  • NM_000784.4:c.1420C>T
  • NP_000775.1:p.Arg474Trp
  • NC_000002.12:g.218814701C>T

Associated Genes

Cytochrome P450, Subfamily XXVIIA, Polypeptide 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121908098

Clinvar

4259

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
213700.3.1Egypt2PathogenicCerebrotendinous XanthomatosisReuter et al. 2017
213700.3.2Egypt2PathogenicCerebrotendinous XanthomatosisReuter et al. 2017 Relative of 213700.3.1
606530.G.1Qatar20.019PathogenicDevadoss Gandhi et al. 2024 2 individuals from a study of 14,060 Qat...
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Contributors

  • Sayeeda Hana: 11.09.2024

Edit History

  • Sayeeda Hana: 27.11.2024
  • Sayeeda Hana: 24.09.2024
  • Sayeeda Hana: 11.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.