NM_001042472.3:c.193C>T

HGVS Expressions

  • NG_028119.1:g.56633C>T
  • NM_001042472.3:c.193C>T
  • NP_001035937.1:p.Arg65Ter
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Genomic Location

chr20:25339350

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

438130

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612674.1.1Lebanon2PathogenicPolyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and CataractEisenberger et al, 2012
612674.1.2Lebanon2PathogenicPolyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and CataractEisenberger et al, 2012 Brother of 612674.1.1
612674.1.3Lebanon1PathogenicEisenberger et al, 2012 Unaffected father of 612674.1.1
612674.1.4Lebanon1PathogenicEisenberger et al, 2012 Unaffected mother of 612674.1.1
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