NM_080680.3:c.966dup

HGVS Expressions

  • NG_011589.1:g.13171dup
  • NM_080680.3:c.966dup
  • NP_542411.2:p.Thr323HisfsTer19
  • NC_000006.12:g.33184304dup
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Duplication

Clinvar

497724

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609706.1United Arab Emirates2PathogenicDeafness, Autosomal Recessive 53Saleh et al. 2021
609706.2.1United Arab Emirates2Likely PathogenicDeafness, Autosomal Recessive 53Elsayed O and Al-Shamsi A. 2022; Vona et al. 2017 Dual diagnosis of non-syndromic hearing ...
609706.2.2United Arab Emirates1Vona et al. 2017 Healthy sister of 609706.2.1.
609706.2.3United Arab Emirates1Vona et al. 2017 Healthy mother of 609706.2.1.
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