NM_005422.2:c.4857C>A

HGVS Expressions

  • NG_011633.1:g.62637C>A
  • NM_005422.2:c.4857C>A
  • NP_005413.2:p.Cys1619Ter

Associated Genes

Tectorin, Alpha
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Genomic Location

chr11:121160302

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

402279

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
603629.2.1Palestine2PathogenicDeafness, Autosomal Recessive 21Shahin et al. 2010
603629.2.2Palestine2PathogenicDeafness, Autosomal Recessive 21Shahin et al. 2010 Sibling of 603629.2.1
603629.2.3Palestine2PathogenicDeafness, Autosomal Recessive 21Shahin et al. 2010 First cousin once removed of 603629.2.1
603629.2.4Palestine2PathogenicDeafness, Autosomal Recessive 21Shahin et al. 2010 Sibling of 603629.2.3
603629.2.5Palestine1PathogenicShahin et al. 2010 Mother of 603629.2.1 and 603629.2.2
603629.2.6Palestine1PathogenicShahin et al. 2010 Father of 603629.2.1 and 603629.2.2
603629.2.7Palestine1PathogenicShahin et al. 2010 Sibling of 603629.2.1 and 603629.2.2
603629.2.8Palestine1PathogenicShahin et al. 2010 Mother of 603629.2.3 and 603629.2.4
603629.2.9Palestine1PathogenicShahin et al. 2010 Father of 603629.2.3 and 603629.2.4
603629.3.1Palestine2PathogenicDeafness, Autosomal Recessive 21Shahin et al. 2010
603629.3.2Palestine2PathogenicDeafness, Autosomal Recessive 21Shahin et al. 2010 Sibling of 603629.3.1
603629.3.3Palestine2PathogenicDeafness, Autosomal Recessive 21Shahin et al. 2010 Sibling of 603629.3.1
603629.3.4Palestine1PathogenicShahin et al. 2010 Mother of 603629.3.1, 603629.3.2, and 60...
603629.3.5Palestine1PathogenicShahin et al. 2010 Father of 603629.3.1, 603629.3.2, and 60...
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