NM_001017420.3:c.1132-7A>G

  1. Home
  2. NM_001017420.3:c.1132-7A>G

HGVS Expressions

  • NG_008117.1:g.19300A>G
  • NM_001017420.3:c.1132-7A>G
  • NP_001017420.1:p.?
  • NC_000008.11:g.27788840A>G

Associated Genes

Establishment of Sister Chromatid Cohesion N-Acetyltransferase 2
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

80359862

Clinvar

21234

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268300.1Saudi Arabia2Likely PathogenicRoberts-SC Phocomelia SyndromeMonies et al. 2017
268300.2Saudi Arabia2Likely PathogenicRoberts-SC Phocomelia SyndromeMonies et al. 2017
Download Table

Contributors

  • Asha Deepthi: 23.10.2024

Edit History

  • Asha Deepthi: 23.10.2024
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.