NM_000053.3:c.2866-2A>G

HGVS Expressions

  • NG_008806.1:g.70015A>G
  • NM_000053.3:c.2866-2A>G
  • NP_000044.2:p.?
  • NC_000013.11:g.51946480T>C
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.G.17Oman2Likely PathogenicAl-Tobi et al. 2011 14 patients in a large family with Wilso...
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