NM_004425.4:c.70+1G>C

HGVS Expressions

  • NG_012062.1:g.5270G>C
  • NM_004425.4:c.70+1G>C
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Genomic Location

chr1:150508280

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
247100.4.1Palestine2PathogenicLipoid Proteinosis of Urbach and WietheHorev et al. 2005 Proband
247100.4.2Palestine2PathogenicLipoid Proteinosis of Urbach and WietheHorev et al. 2005 Brother of 247100.4.1
247100.4.3Palestine2PathogenicLipoid Proteinosis of Urbach and WietheHorev et al. 2005 Sister of 247100.4.1
247100.4.4Palestine1PathogenicHorev et al. 2005 Unaffected brother of 247100.4.1
247100.4.5Palestine1PathogenicHorev et al. 2005 Unaffected sister of 247100.4.1
247100.4.6Palestine1PathogenicHorev et al. 2005 Unaffected father of 247100.4.1
247100.4.7Palestine1PathogenicHorev et al. 2005 Unaffected mother of 247100.4.1
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