NM_001142279.2:c.356A>G

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  2. NM_001142279.2:c.356A>G

HGVS Expressions

  • NG_009055.1:g.30164A>G
  • NM_001142279.2:c.356A>G
  • NP_001135751.1:p.Asp119Gly
  • NC_000013.11:g.50934919A>G

Associated Genes

Ribonuclease H2, Subunit B
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

786205483

Clinvar

191042

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610181.2.G.1Arab20Likely PathogenicAicardiI-Goutieres Syndrome 2Al Mutairi et al. 2018 Group of 10 unrelated Arab patients from...
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Contributors

  • Pratibha Nair: 24.08.2022

Edit History

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