NM_000441.1:c.1341+1del

HGVS Expressions

  • NG_008489.1:g.38847del
  • NM_000441.1:c.1341+1del
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Genomic Location

chr7:107694481

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

43505

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600791.1.1Palestine2PathogenicDeafness, Autosomal Recessive 4, with Enlarged Vestibular AqueductShahin et al. 2010
600791.1.2Palestine2PathogenicDeafness, Autosomal Recessive 4, with Enlarged Vestibular AqueductShahin et al. 2010 Brother of 600791.1.1
600791.1.3Palestine2PathogenicDeafness, Autosomal Recessive 4, with Enlarged Vestibular AqueductShahin et al. 2010 Paternal aunt of 600791.1.1
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