NM_000089.4:c.279+1G>A

HGVS Expressions

  • NG_007405.1:g.12061G>A
  • NM_000089.4:c.279+1G>A
  • NC_000007.14:g.94401621G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

17251

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617821.1Lebanon1PathogenicEhlers-Danlos Syndrome, Arthrochalasia Type, 2Lehmann et al. 1994
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