NM_001199799.1:c.804del

HGVS Expressions

  • NG_031870.1:g.33336del
  • NM_001199799.1:c.804del
  • NP_001186728.1:p.Gln269ArgfsTer4
  • NC_000003.12:g.121993945del
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609646.G.1.1United Arab Emirates10Likely PathogenicDeafness, Autosomal Recessive 42Tlili et al. 2017 5 affected siblings
609646.G.1.2United Arab Emirates5Likely PathogenicTlili et al. 2017 Parents and 3 unaffected siblings of 609...
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