NM_018486.3:c.958G>A

  1. Home
  2. NM_018486.3:c.958G>A

HGVS Expressions

  • NG_015851.1:g.116053G>A
  • NM_018486.3:c.958G>A
  • NP_060956.1:p.Gly320Arg

Associated Genes

Histone Deacetylase 8
Back to search Result
Genomic Location

chrX:72462051

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

398122909

Clinvar

39713

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300882.2Lebanon1PathogenicCornelia de Lange Syndrome 5Nair et al. 2018 Parents from same village
Download Table

Contributors

  • Pratibha Nair: 23.04.2020

Edit History

  • Pratibha Nair: 26.10.2022
  • Pratibha Nair: 23.04.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.