NM_032119.3:c.17756-2239_17856+11701delinsTAGACAGGGTTTCACC

HGVS Expressions

  • NG_007083.1:g.307719_321759delinsTAGACAGGGTTTCACC
  • NM_032119.3:c.17756-2239_17856+11701delinsTAGACAGGGTTTCACC
  • NC_000005.10:g.90861518_90875558delinsTAGACAGGGTTTCACC
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CTGA Clinical Significance

Pathogenic

Variant Type

Indel

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605472.2Lebanon2PathogenicUsher Syndrome, Type IICReddy et al. 2014 The patient's brother and maternal aunt ...
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