NM_004415.3:c.7097G>A

HGVS Expressions

  • NG_008803.1:g.47723G>A
  • NM_004415.3:c.7097G>A
  • NP_004406.2:p.Arg2366His

Associated Genes

Desmoplakin
Back to search Result
Genomic Location

chr6:7584359

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

29672

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607655.1.1Saudi Arabia2PathogenicSkin Fragility-Woolly Hair SyndromeAl-Owain et al. 2011 Index patient
607655.1.2Saudi Arabia2PathogenicSkin Fragility-Woolly Hair SyndromeAl-Owain et al. 2011 Brother of 607655.1.1
607655.1.3Saudi Arabia2PathogenicSkin Fragility-Woolly Hair SyndromeAl-Owain et al. 2011 Brother of 607655.1.1
607655.1.4Saudi Arabia1PathogenicAl-Owain et al. 2011 Unaffected father of 607655.1.1
607655.1.5Saudi Arabia1PathogenicAl-Owain et al. 2011 Unaffected mother of 607655.1.1
607655.1.6Saudi Arabia2PathogenicSkin Fragility-Woolly Hair SyndromeAl-Owain et al. 2011 Cousin of 607655.1.1
607655.1.7Saudi Arabia2PathogenicSkin Fragility-Woolly Hair SyndromeAl-Owain et al. 2011 Cousin of 607655.1.1
607655.1.8Saudi Arabia1PathogenicAl-Owain et al. 2011 Unaffected father of 607655.1.6
607655.1.9Saudi Arabia1PathogenicAl-Owain et al. 2011 Unaffected mother of 607655.1.6
© CAGS 2024. All rights reserved.