NM_000263.4:c.889C>T

HGVS Expressions

  • NG_011552.1:g.10142C>T
  • NM_000263.4:c.889C>T
  • NP_000254.2:p.Arg297Ter
  • NC_000017.11:g.42541074C>T
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1562

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
252920.G.2Saudi Arabia8NAPathogenicMucopolysaccharidosis Type IIIBMaddirevula et al. 2018 Four related patients
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