NM_001139.3:c.1294C>T

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  2. NM_001139.3:c.1294C>T

HGVS Expressions

  • NG_007099.2:g.15992C>T
  • NM_001139.3:c.1294C>T
  • NP_001130.1:p.Arg432Ter
  • NC_000017.11:g.8076725G>A

Associated Genes

Arachidonate 12-Lipoxygenase, R Type
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

397514527

Clinvar

39539

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
242100.1.1Lebanon2PathogenicIchthyosiform Erythroderma, Congenital, Nonbullous, 1Kurban et al, 2010
242100.1.2Lebanon1PathogenicKurban et al, 2010 Unaffected father of 242100.1.1
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Contributors

  • Sayeeda Hana: 13.02.2020

Edit History

  • Pratibha Nair: 22.11.2022
  • Sayeeda Hana: 13.02.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.