NM_015458.4:c.1415A>T

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  2. NM_015458.4:c.1415A>T

HGVS Expressions

  • NM_015458.4:c.1415A>T
  • NP_056273.2:p.Asn472Ile
  • NC_000008.11:g.11319767A>T

Associated Genes

Myotubularin-Related Protein 9
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

377054169

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606260.1Saudi Arabia2Likely PathogenicMTMR9 Associated Neurodevelopmental DisorderMaddirevula et al. 2019 Two sisters with ID
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Contributors

  • Pratibha Nair: 05.10.2022

Edit History

  • Pratibha Nair: 05.10.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.