NM_001142279.2:c.554T>G

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  2. NM_001142279.2:c.554T>G

HGVS Expressions

  • NG_009055.1:g.40715T>G
  • NM_001142279.2:c.554T>G
  • NP_001135751.1:p.Val185Gly
  • NC_000013.11:g.50945470T>G

Associated Genes

Ribonuclease H2, Subunit B
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

74555752

Clinvar

1263

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610181.2.1Arab2Likely PathogenicAicardiI-Goutieres Syndrome 2Al Mutairi et al. 2018
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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.