NM_020964.3:c.5993C>G

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HGVS Expressions

  • NG_042838.1:g.96048C>G
  • NM_020964.3:c.5993C>G
  • NP_066015.2:p.Ser1998Ter

Associated Genes

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

chr18:45876292

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1568112516

Clinvar

626231

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
242840.4.1Palestine2PathogenicVici SyndromeByrne et al. 2016 The patient had an additional 2 siblings...
242840.4.2Palestine2PathogenicVici SyndromeByrne et al. 2016 Sibling of 242840.4.1
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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.