NM_005422.2:c.2941+1G>A

HGVS Expressions

  • NG_011633.1:g.32547G>A
  • NM_005422.2:c.2941+1G>A

Associated Genes

Tectorin, Alpha
Back to search Result
Genomic Location

chr11:121130212

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

7015

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
603629.1.1Lebanon2PathogenicDeafness, Autosomal Recessive 21Mustapha et al. 1999
603629.1.2Lebanon2PathogenicDeafness, Autosomal Recessive 21Mustapha et al. 1999 Brother of 603629.1.1
603629.1.3Lebanon2PathogenicDeafness, Autosomal Recessive 21Mustapha et al. 1999 Sister of 603629.1.1
603629.1.4Lebanon2PathogenicDeafness, Autosomal Recessive 21Mustapha et al. 1999 First cousin of 603629.1.1
603629.1.5Lebanon2PathogenicDeafness, Autosomal Recessive 21Mustapha et al. 1999 Brother of 603629.1.4
603629.1.6Lebanon2PathogenicDeafness, Autosomal Recessive 21Mustapha et al. 1999 Brother of 603629.1.4
603629.1.7Lebanon2PathogenicDeafness, Autosomal Recessive 21Mustapha et al. 1999 Sister of 603629.1.4
603629.1.8Lebanon2PathogenicDeafness, Autosomal Recessive 21Mustapha et al. 1999 Nephew of 603629.1.1
603629.1.9Lebanon2PathogenicDeafness, Autosomal Recessive 21Mustapha et al. 1999 Nephew of 603629.1.1
603629.1.10Lebanon1PathogenicMustapha et al. 1999 Mother of 603629.1.1
603629.1.11Lebanon1PathogenicMustapha et al. 1999 Mother of 603629.1.4
603629.1.12Lebanon1PathogenicMustapha et al. 1999 Mother of 603629.1.8 and 603629.1.9
603629.1.13Lebanon1PathogenicMustapha et al. 1999 Father of 603629.1.8 and 603629.1.9
© CAGS 2024. All rights reserved.