NM_033629.6:c.341G>A

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  2. NM_033629.6:c.341G>A

HGVS Expressions

  • NG_009820.2:g.6167G>A
  • NM_033629.6:c.341G>A
  • NP_338599.1:p.Arg114His
  • NC_000003.12:g.48466996G>A

Associated Genes

3-Prime Repair Exonuclease 1
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Clinvar Clinical Significance

Benign, Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

72556554

Clinvar

4179

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
192315.1United Arab Emirates2PathogenicVasculopathy, Retinal, with Cerebral LeukodystrophyAl-Shamsi et al. 2016 Deceased sibling with similar features
606609.1Arab2PathogenicAicardi-Goutieres Syndrome 1, Autosomal DominantAl Mutairi et al. 2018
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Contributors

  • Pratibha Nair: 27.07.2020

Edit History

  • Pratibha Nair: 24.08.2022
  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 27.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.