NM_005857.5:c.627+1G>C

HGVS Expressions

  • NG_008695.1:g.17068G>C
  • NM_005857.5:c.627+1G>C
  • NC_000001.11:g.40270128G>C
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

140532

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
275210.1.1United Arab Emirates2PathogenicRestrictive Dermopathy, LethalSander et al. 2008
275210.1.2United Arab Emirates2PathogenicRestrictive Dermopathy, LethalSander et al. 2008 Fourth cousin of 275210.1.1
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