NM_000195.5:c.1273G>A

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  2. NM_000195.5:c.1273G>A

HGVS Expressions

  • NG_009646.1:g.26345G>A
  • NM_000195.5:c.1273G>A
  • NP_000186.2:p.Val425Met
  • NC_000010.11:g.98425603C>T

Associated Genes

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

Likely Benign

Variant Type

Substitution

dbSNP

1157200206

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613990.1United Arab Emirates1Likely BenignAlsamri et al. 2020; Alsamri et al. 2021 Authors mention that variant 10352C>T ma...
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Contributors

  • Pratibha Nair: 15.02.2022

Edit History

  • Pratibha Nair: 17.02.2022
  • Pratibha Nair: 15.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.