NM_020427.3:c.1A>C

HGVS Expressions

  • NG_011494.1:g.5027A>C
  • NM_020427.3:c.1A>C
  • NP_065160.1:p.Met1?
  • NC_000008.11:g.142742385T>G
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

4604

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248300.1.1United Arab Emirates2PathogenicMal de MeledaEckl et al. 2003
248300.1.2United Arab Emirates1Lestringant et al 1997; Eckl et al. 2003 Sibling of 248300.1.1
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