NM_138691.2:c.1210T>C

HGVS Expressions

  • NG_008213.1:g.272503T>C
  • NM_138691.2:c.1210T>C
  • NP_619636.2:p.Trp404Arg
  • NC_000009.12:g.72789303T>C
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

242395

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600974.6.1Morocco1PathogenicDeafness, Autosomal Recessive 7Brownstein et al. 2011
600974.6.2Morocco1PathogenicDeafness, Autosomal Recessive 7Brownstein et al. 2011 Brother of 600974.6.1
600974.6.3Morocco1PathogenicDeafness, Autosomal Recessive 7Brownstein et al. 2011 Sister of 600974.6.1
600974.6.4Morocco1PathogenicBrownstein et al. 2011 Unaffected father of 600974.6.1
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