NR_023343.1:n.46G>A

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  2. NR_023343.1:n.46G>A

HGVS Expressions

  • NR_023343.1:n.46G>A
  • NC_000002.12:g.121530925G>A

Associated Genes

RNA, U4ATAC Small Nuclear
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

1032667950

Clinvar

636959

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
210710.G.1Saudi Arabia3NAUncertain SignificanceMicrocephalic Osteodysplastic Primordial Dwarfism, Type IMaddirevula et al. 2018 Three related patients
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Contributors

  • Asha Deepthi: 14.02.2022

Edit History

  • Asha Deepthi: 14.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.