NM_000053.3:c.2448-25G>A

HGVS Expressions

  • NG_008806.1:g.66071G>A
  • NM_000053.3:c.2448-25G>A
  • NP_000044.2:p.?
  • NC_000013.11:g.51950424C>T
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

9526811

Clinvar

254764

Epidemiology in the Arab World

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