NM_004425.4:c.93_94delinsTT

HGVS Expressions

  • NG_012062.1:g.6543_6544delinsTT
  • NM_004425.4:c.93_94delinsTT
  • NP_004416.2:p.Arg31_Gln32delinsSerTer
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Genomic Location

chr1:150509553-150509554

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Indel

Clinvar

222949

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
247100.3.1Libya2PathogenicLipoid Proteinosis of Urbach and WietheChan et al. 2003 Proband. He had an affected brother wh...
247100.3.2Libya1PathogenicChan et al. 2003 Unaffected sibling of 247100.3.1
247100.3.3Libya1PathogenicChan et al. 2003 Unaffected sibling of 247100.3.1
247100.3.4Libya1PathogenicChan et al. 2003 Unaffected sibling of 247100.3.1
247100.3.5Libya1PathogenicChan et al. 2003 Unaffected sibling of 247100.3.1
247100.3.6Libya1PathogenicChan et al. 2003 Unaffected mother of 247100.3.1
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