NM_138691.2:c.100C>T

HGVS Expressions

  • NG_008213.1:g.177778C>T
  • NM_138691.2:c.100C>T
  • NP_619636.2:p.Arg34Ter
  • NC_000009.12:g.72694578C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

4103

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600974.1.1Tunisia2PathogenicDeafness, Autosomal Recessive 7Ben Said et al, 2010
600974.1.2Tunisia2PathogenicDeafness, Autosomal Recessive 7Ben Said et al, 2010
600974.1.3Tunisia2PathogenicDeafness, Autosomal Recessive 7Ben Said et al, 2010
600974.1.4Tunisia2PathogenicDeafness, Autosomal Recessive 7Ben Said et al, 2010
600974.1.5Algeria2PathogenicDeafness, Autosomal Recessive 7Ben Said et al, 2010
600974.1.6Algeria2PathogenicDeafness, Autosomal Recessive 7Ben Said et al, 2010
600974.1.7Iraq2PathogenicDeafness, Autosomal Recessive 7Ben Said et al, 2010
600974.1.8Lebanon2PathogenicDeafness, Autosomal Recessive 7Ben Said et al, 2010
600974.7United Arab Emirates2Likely PathogenicDeafness, Autosomal Recessive 7Alobathani et al. 2018 At least 2 affected families with the sa...
600974.GUnited Arab Emirates10Likely PathogenicDeafness, Autosomal Recessive 7Elsayed O and Al-Shamsi A. 2022 Five individuals with no other informati...
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