NM_000441.2:c.716T>A

HGVS Expressions

  • NG_008489.1:g.19426T>A
  • NM_000441.2:c.716T>A
  • NP_000432.1:p.Val239Asp
  • NC_000007.14:g.107675060T>A
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

43566

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
274600.1.01Palestine2PathogenicPendred SyndromeWalsh et al. 2006
274600.1.02Palestine2PathogenicPendred SyndromeWalsh et al. 2006 Brother of 274600.1.01
274600.1.03Palestine2PathogenicPendred SyndromeWalsh et al. 2006 Brother of 274600.1.01
274600.1.04Palestine2PathogenicPendred SyndromeWalsh et al. 2006 First cousin, once-removed, of 274600.1....
274600.1.05Palestine1PathogenicWalsh et al. 2006 Father of 274600.1.01
274600.1.06Palestine1PathogenicWalsh et al. 2006 Mother of 274600.1.01
274600.1.07Palestine1PathogenicWalsh et al. 2006 Maternal aunt of 274600.1.01
274600.1.08Palestine1PathogenicWalsh et al. 2006 Maternal uncle of 274600.1.01
274600.1.09Palestine1PathogenicWalsh et al. 2006 Great aunt of 274600.1.01, Mother of 274...
274600.1.10Palestine1PathogenicWalsh et al. 2006 Great uncle of 274600.1.01, Father of 27...
274600.1.11Palestine1PathogenicWalsh et al. 2006 Maternal grandmother of 274600.1.01
600791.2.1United Arab Emirates2Likely PathogenicDeafness, Autosomal Recessive 4, with Enlarged Vestibular AqueductChouchen et al. 2021 Proband
600791.2.2United Arab Emirates2Likely PathogenicDeafness, Autosomal Recessive 4, with Enlarged Vestibular AqueductChouchen et al. 2021 Sibling of proband
600791.2.3United Arab Emirates2Likely PathogenicDeafness, Autosomal Recessive 4, with Enlarged Vestibular AqueductChouchen et al. 2021 Sibling of proband
600791.2.4United Arab Emirates2Likely PathogenicDeafness, Autosomal Recessive 4, with Enlarged Vestibular AqueductChouchen et al. 2021 Sibling of proband
600791.2.5United Arab Emirates1Chouchen et al. 2021 Healthy sibling of proband
600791.2.6United Arab Emirates1Chouchen et al. 2021 Healthy sibling of proband
600791.2.7United Arab Emirates1Chouchen et al. 2021 Mother of proband
600791.2.8United Arab Emirates1Chouchen et al. 2021 Father of proband
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