NM_022726.4:c.575A>G

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HGVS Expressions

  • NG_009108.2:g.33085A>G
  • NM_022726.4:c.575A>G
  • NP_073563.1:p.His192Arg
  • NC_000006.12:g.79919514T>C

Associated Genes

Elongation of Very Long Chain Fatty Acids-Like 4
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1774216799

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614457.1Saudi Arabia2Likely PathogenicIchthyosis, Spastic Quadriplegia, and Mental RetardationMonies et al. 2017
614457.2Saudi Arabia2Likely PathogenicIchthyosis, Spastic Quadriplegia, and Mental RetardationMonies et al. 2017
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Contributors

  • Asha Deepthi: 25.09.2024

Edit History

  • Asha Deepthi: 25.09.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.