NM_000494.4:c.3766+1G>A

  1. Home
  2. NM_000494.4:c.3766+1G>A

HGVS Expressions

  • NG_007069.1:g.56261G>A
  • NM_000494.4:c.3766+1G>A

Associated Genes

Collagen, Type XVII, Alpha-1
Back to search Result
Genomic Location

chr10:104034620

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
226650.G.1Palestine12PathogenicEpidermolysis Bullosa, Junctional 1A, IntermediateWhittock et al. 2003 Six patients from a large consanguineous...
Download Table

Contributors

    Edit History

    • Asha Deepthi: 27.08.2020
    Back to search Result
    © CAGS 2024. All rights reserved.
    © CAGS 2024. All rights reserved.