NM_024570.3:c.529G>A

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  2. NM_024570.3:c.529G>A

HGVS Expressions

  • NG_009055.1:g.40690G>A
  • NM_024570.3:c.529G>A
  • NP_078846.2:p.Ala177Thr
  • NC_000013.11:g.50945445G>A

Associated Genes

Ribonuclease H2, Subunit B
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

75184679

Clinvar

1262

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610181.1Lebanon2PathogenicAicardiI-Goutieres Syndrome 2Nair et al. 2018
610181.2Lebanon2Likely PathogenicAicardiI-Goutieres Syndrome 2Jalkh et al. 2019
610181.2.G.2Arab4PathogenicAicardiI-Goutieres Syndrome 2Al Mutairi et al. 2018 2 unrelated Arab patients
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Contributors

  • Pratibha Nair: 21.04.2020

Edit History

  • Pratibha Nair: 22.11.2022
  • Pratibha Nair: 24.08.2022
  • Pratibha Nair: 01.11.2020
  • Pratibha Nair: 21.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.