NM_032119.4:c.16040del

HGVS Expressions

  • NG_007083.2:g.286957del
  • NM_032119.4:c.16040del
  • NP_115495.3:p.Asp5347fs
  • NC_000005.10:g.90811300del
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605472.3Lebanon2PathogenicUsher Syndrome, Type IICReddy et al. 2014 The patient's 3 brothers and 6 extended ...
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