NM_006397.2:c.557G>A

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  2. NM_006397.2:c.557G>A

HGVS Expressions

  • NG_012662.1:g.8711G>A
  • NM_006397.2:c.557G>A
  • NP_006388.2:p.Arg186Gln
  • NC_000019.10:g.12810324G>A

Associated Genes

Ribonuclease H2, Subunit A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

753679297

Clinvar

445579

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610333.1United Arab Emirates2PathogenicAicardi-Goutieres Syndrome 4Saleh et al. 2021 Affected sister
610333.2United Arab Emirates2PathogenicAicardi-Goutieres Syndrome 4Saleh et al. 2021 Affected brother
610333.3.GArab10PathogenicAicardi-Goutieres Syndrome 4Al Mutairi et al. 2018 Group of 5 unrelated Arab patients from ...
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Contributors

  • Pratibha Nair: 10.10.2021

Edit History

  • Pratibha Nair: 12.01.2023
  • Pratibha Nair: 24.08.2022
  • Pratibha Nair: 10.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.