NM_174878.3:c.188A>C

HGVS Expressions

  • NG_009168.1:g.5479A>C
  • NM_174878.3:c.188A>C
  • NP_777367.1:p.Tyr63Ser
  • NC_000003.12:g.150972521T>G

Associated Genes

Clarin 1
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

992423

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276902.5.1Lebanon2PathogenicUsher Syndrome, Type IIIAJaffal et al, 2019b
276902.5.2Lebanon1Jaffal et al, 2019b Father of 276902.5.1
276902.5.3Lebanon1Jaffal et al, 2019b Mother of 276902.5.1
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