NM_004004.5:c.167del

HGVS Expressions

  • NG_008358.1:g.8561del
  • NM_004004.5:c.167del
  • NP_003995.2:p.Leu56ArgfsTer26
  • NC_000013.11:g.20189415del
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

17010

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220290.1Palestine1NALikely PathogenicDeafness, Autosomal Recessive 1AShahin et al. 2002
220290.G.2.2Palestine6NALikely PathogenicDeafness, Autosomal Recessive 1AShahin et al. 2002 Group of 3 patients
220290.G.4.2Algeria2NALikely PathogenicDeafness, Autosomal Recessive 1AAmmar-Khodja et al. 2009 Unknown number of patients from an Alger...
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