NM_004004.5:c.-23+1G>A

HGVS Expressions

  • NG_008358.1:g.5194G>A
  • NM_004004.5:c.-23+1G>A
  • NC_000013.11:g.20192782C>T
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

17029

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220290.3Palestine1NAPathogenicDeafness, Autosomal Recessive 1AShahin et al. 2002
220290.4Egypt1NAPathogenicDeafness, Autosomal Recessive 1ASnoeckx et al. 2005
220290.G.4.3Algeria1NAPathogenicDeafness, Autosomal Recessive 1AAmmar-Khodja et al. 2009 Unknown number of patients from an Alger...
220290.G.4.8Algeria1NAPathogenicDeafness, Autosomal Recessive 1AAmmar-Khodja et al. 2009 Unknown number of patients from an Alger...
220290.G.12United Arab Emirates6Likely PathogenicDeafness, Autosomal Recessive 1AElsayed O and Al-Shamsi A. 2022 3 individuals with hearing loss
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