NM_004425.4:c.1019delA

HGVS Expressions

  • NG_012062.1:g.8757delA
  • NM_004425.4:c.1019delA
  • NP_004416.2:p.Gln340ArgfsTer37
  • NC_000001.11:g.150511767del
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

7471

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
247100.2.1Kuwait2PathogenicLipoid Proteinosis of Urbach and WietheHamada et al. 2002
247100.2.2Kuwait2PathogenicLipoid Proteinosis of Urbach and WietheHamada et al. 2002 Sibling of 247100.2.1
247100.2.3Kuwait2PathogenicLipoid Proteinosis of Urbach and WietheHamada et al. 2002 Sibling of 247100.2.1
247100.2.4Kuwait1PathogenicHamada et al. 2002 Unaffected father of 247100.2.1
247100.2.5Kuwait1PathogenicHamada et al. 2002 Unaffected mother of 247100.2.1
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