NM_004004.5:c.139G>T

HGVS Expressions

  • NG_008358.1:g.8533G>T
  • NM_004004.5:c.139G>T
  • NP_003995.2:p.Glu47Ter
  • NC_000013.11:g.20189443C>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

17005

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220290.G.3.2Tunisia2NAPathogenicDeafness, Autosomal Recessive 1AMasmoudi et al. 2000 Unknown number of patients from a Tunisi...
220290.G.3.3Tunisia1NAPathogenicDeafness, Autosomal Recessive 1AMasmoudi et al. 2000 Unknown number of patients from a Tunisi...
220290.G.4.4Algeria2NAPathogenicDeafness, Autosomal Recessive 1AAmmar-Khodja et al. 2009 Unknown number of patients from 2 famili...
220290.G.5.5Tunisia4NAPathogenicDeafness, Autosomal Recessive 1ADenoyelle et al. 1997 2 patients from family 'ST' in the publi...
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