NM_020964.3:c.4751T>A

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HGVS Expressions

  • NG_042838.1:g.72878T>A
  • NM_020964.3:c.4751T>A
  • NP_066015.2:p.Leu1584Ter

Associated Genes

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

chr18:45899462

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1568133760

Clinvar

626245

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
242840.1Saudi Arabia2PathogenicVici SyndromeByrne et al. 2016 Patient had 2 similarly affected sibling...
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Contributors

  • Sayeeda Hana: 01.09.2020

Edit History

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