NM_000195.4:c.1928G>A

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HGVS Expressions

  • NG_009646.1:g.33761G>A
  • NM_000195.4:c.1928G>A
  • NP_000186.2:p.Gly643Glu
  • NC_000010.11:g.98418187C>T

Associated Genes

HPS1 Biogenesis of Lysosomal Organelles Complex 3, Subunit 1
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

148225281

Clinvar

298337

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
147060.3United Arab Emirates1Uncertain SignificanceAlsamri et al. 2020 Atopy reported in family
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Contributors

  • Pratibha Nair: 21.02.2022

Edit History

  • Pratibha Nair: 21.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.