NM_032193.4:c.172G>A

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  2. NM_032193.4:c.172G>A

HGVS Expressions

  • NG_033057.1:g.13586C>T
  • NM_032193.4:c.172G>A
  • NP_115569.2:p.Gly58Arg
  • NC_000011.10:g.65720587C>T

Associated Genes

Ribonuclease H2, Subunit C
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

544915618

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610329.2.1United Arab Emirates2Likely PathogenicAicardi-Goutieres Syndrome 3Kumar et al. 2019 Older sibling with global developmental ...
610329.2.2United Arab Emirates1Kumar et al. 2019 Father of 610329.2.1
610329.2.3United Arab Emirates1Kumar et al. 2019 Mother of 610329.2.1
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Contributors

  • Pratibha Nair: 18.07.2022

Edit History

  • Pratibha Nair: 18.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.