NM_032193.4:c.205C>T

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  2. NM_032193.4:c.205C>T

HGVS Expressions

  • NG_008976.2:g.5554C>T
  • NM_032193.4:c.205C>T
  • NP_115569.2:p.Arg69Trp
  • NC_000011.10:g.65720385G>A

Associated Genes

Ribonuclease H2, Subunit C
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

78635798

Clinvar

1260

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610329.1.1United Arab Emirates2PathogenicAicardi-Goutieres Syndrome 3Al-Shamsi et al. 2016
610330.G.1Arab4PathogenicAicardi-Goutieres Syndrome 3Al Mutairi et al. 2018 2 unrelated Arab patients
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Contributors

  • Pratibha Nair: 06.07.2020

Edit History

  • Sayeeda Hana: 27.11.2022
  • Pratibha Nair: 24.08.2022
  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 06.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.