NM_000382.3:c.628G>A

HGVS Expressions

  • NG_007095.2:g.12772G>A
  • NM_000382.3:c.628G>A
  • NP_000373.1:p.Gly210Arg
  • NC_000017.11:g.19656522G>A
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
270200.3.1Jordan2PathogenicSjogren-Larsson SyndromeMakrythanasis et al. 2014
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