NM_000053.3:c.3903+6C>T

HGVS Expressions

  • NG_008806.1:g.79025C>T
  • NM_000053.3:c.3903+6C>T
  • NP_000044.2:p.?
  • NC_000013.11:g.51937470G>A
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Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

2282057

Clinvar

35727

Epidemiology in the Arab World

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