NM_000260.4:c.5660C>T

HGVS Expressions

  • NG_009086.2:g.82875C>T
  • NM_000260.4:c.5660C>T
  • NP_000251.3:p.Pro1887Leu
  • NC_000011.10:g.77206120C>T

Associated Genes

Myosin VIIA
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

43295

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600060.3.1United Arab Emirates2PathogenicDeafness, Autosomal Recessive 2Ben-Salem et al. 2014
600060.3.2United Arab Emirates2PathogenicDeafness, Autosomal Recessive 2Ben-Salem et al. 2014 Sibling of 600060.3.1
600060.3.3United Arab Emirates2PathogenicDeafness, Autosomal Recessive 2Ben-Salem et al. 2014 Sibling of 600060.3.1
600060.3.4United Arab Emirates2PathogenicDeafness, Autosomal Recessive 2Ben-Salem et al. 2014 First cousin once removed of 600060.3.1
600060.3.5United Arab Emirates2PathogenicDeafness, Autosomal Recessive 2Ben-Salem et al. 2014 Sibling of 600060.3.4
600060.3.6United Arab Emirates2PathogenicDeafness, Autosomal Recessive 2Ben-Salem et al. 2014 Sibling of 600060.3.4
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