NM_194248.2:c.4491T>A

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  2. NM_194248.2:c.4491T>A

HGVS Expressions

  • NG_009937.1:g.96976T>A
  • NM_194248.2:c.4491T>A
  • NP_919224.1:p.Tyr1497Ter

Associated Genes

Otoferlin
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Genomic Location

chr2:26466723

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

80356600

Clinvar

6133

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601071.1.1Lebanon2PathogenicDeafness, Autosomal Recessive 9Chaib et al. 1996; Yasunaga et al. 1999
601071.1.2Lebanon2PathogenicDeafness, Autosomal Recessive 9Chaib et al. 1996; Yasunaga et al. 1999 Sibling of 601071.1.1
601071.1.3Lebanon2PathogenicDeafness, Autosomal Recessive 9Chaib et al. 1996; Yasunaga et al. 1999 Sibling of 601071.1.1
601071.1.4Lebanon2PathogenicDeafness, Autosomal Recessive 9Chaib et al. 1996; Yasunaga et al. 1999 Sibling of 601071.1.1
601071.1.5Lebanon2PathogenicDeafness, Autosomal Recessive 9Chaib et al. 1996; Yasunaga et al. 1999 Second cousin of 601071.1.1
601071.1.6Lebanon2PathogenicDeafness, Autosomal Recessive 9Chaib et al. 1996; Yasunaga et al. 1999 First cousin of 601071.1.5
601071.1.7Lebanon2PathogenicDeafness, Autosomal Recessive 9Chaib et al. 1996; Yasunaga et al. 1999 Sibling of 601071.1.16
601071.1.8Lebanon2PathogenicDeafness, Autosomal Recessive 9Chaib et al. 1996; Yasunaga et al. 1999 First cousin of 601071.1.6
601071.1.9Lebanon2PathogenicDeafness, Autosomal Recessive 9Chaib et al. 1996; Yasunaga et al. 1999 Sibling of 601071.1.8
601071.1.10Lebanon2PathogenicDeafness, Autosomal Recessive 9Chaib et al. 1996; Yasunaga et al. 1999 Sibling of 601071.1.8
601071.2.1Lebanon2PathogenicDeafness, Autosomal Recessive 9Yasunaga et al. 1999
601071.2.2Lebanon2PathogenicDeafness, Autosomal Recessive 9Yasunaga et al. 1999 Sibling of 601071.2.1
601071.2.3Lebanon2PathogenicDeafness, Autosomal Recessive 9Yasunaga et al. 1999 Sibling of 601071.2.1
601071.5Lebanon2PathogenicDeafness, Autosomal Recessive 9Jalkh et al. 2019
601071.G.1Lebanon16PathogenicDeafness, Autosomal Recessive 9Yasunaga et al. 1999 8 patients from 2 unrelated families
601071.G.2Lebanon11PathogenicYasunaga et al. 1999 11 parents of children with prelingual h...
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Contributors

  • Pratibha Nair: 25.02.2019

Edit History

  • Pratibha Nair: 08.11.2020
  • Pratibha Nair: 25.02.2019
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© CAGS 2024. All rights reserved.