NM_000373.4:c.1010C>G

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  2. NM_000373.4:c.1010C>G

HGVS Expressions

  • NG_017037.1:g.14686C>G
  • NM_000373.4:c.1010C>G
  • NP_000364.1:p.Ala337Gly
  • NC_000003.12:g.124740051C>G

Associated Genes

Uridine Monophosphate Synthetase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
258900.1.1United Arab Emirates2NALikely PathogenicOrotic AciduriaAl Absi et al. 2021 Proband
258900.1.2United Arab Emirates1NAAl Absi et al. 2021 Father of 258900.1.1
258900.1.3United Arab Emirates1NAAl Absi et al. 2021 Mother of 258900.1.1
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Contributors

  • Asha Deepthi: 20.05.2022

Edit History

  • Asha Deepthi: 20.05.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.