NM_020964.3:c.2355del

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  2. NM_020964.3:c.2355del

HGVS Expressions

  • NG_042838.1:g.41607del
  • NM_020964.3:c.2355del
  • NP_066015.2:p.Arg786GlufsTer10

Associated Genes

Ectopic P-Granules Autophagy Protein 5, C. Elegans, Homolog of
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Genomic Location

chr18:45930733

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
242840.3Egypt2PathogenicVici SyndromeByrne et al. 2016 The patient had 3 similarly affected sib...
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Contributors

  • Sayeeda Hana: 01.09.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 01.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.