NM_020964.3:c.3447G>A

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HGVS Expressions

  • NG_042838.1:g.56196G>A
  • NM_020964.3:c.3447G>A
  • NP_066015.2:p.Trp1149Ter

Associated Genes

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

chr18:45916144

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

886276412

Clinvar

812308

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
242840.8.1Palestine2PathogenicVici SyndromeByrne et al. 2016
242840.8.2Palestine2PathogenicVici SyndromeByrne et al. 2016 Cousin of 242840.8.1
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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.