NM_000384.3:c.1468C>T

  1. Home
  2. NM_000384.3:c.1468C>T

HGVS Expressions

  • NG_011793.1:g.19174C>T
  • NM_000384.3:c.1468C>T
  • NP_000375.3:p.Arg490Trp

Associated Genes

Apolipoprotein B
Back to search Result
Genomic Location

chr2:21029900

Clinvar Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

771541567

Clinvar

1685527

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615558.G.1LebanonHypobetalipoproteinemia, Familial, 1Burnett et al, 2003 Two homozygous and 14 heterozygous indiv...
Download Table

Contributors

  • Asha Deepthi: 27.05.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Asha Deepthi: 27.05.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.