NM_000127.3:c.2132G>A

HGVS Expressions

  • NG_007455.2:g.316999G>A
  • NM_000127.3:c.2132G>A
  • NP_000118.2:p.Trp711Ter
  • NC_000008.11:g.117799821C>T
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

191230

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
133700.1.1Saudi Arabia1NAPathogenicExostoses, Multiple, Type IMaddirevula et al. 2018
133700.1.2Saudi Arabia1NAPathogenicExostoses, Multiple, Type IMaddirevula et al. 2018 Relative of 133700.1.1
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