NM_013328.4:c.28C>T

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  2. NM_013328.4:c.28C>T

HGVS Expressions

  • NG_044963.1:g.5258C>T
  • NM_013328.4:c.28C>T
  • NP_037460.2:p.Gln10Ter
  • NC_000001.11:g.225924083G>A

Associated Genes

Pyrroline-5-Carboxylate Reductase 2
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1213814230

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616420.1United Arab Emirates2Likely PathogenicLeukodystrophy, Hypomyelinating, 10Al-Shamsi et al. 2016
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Contributors

  • Pratibha Nair: 14.07.2020

Edit History

  • Pratibha Nair: 02.01.2023
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 14.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.