NM_015627.2:c.89-1G>C

HGVS Expressions

  • NG_008932.1:g.15337G>C
  • NM_015627.2:c.89-1G>C
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Genomic Location

chr1:25553921

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

4779

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
603813.4.1Lebanon2PathogenicHypercholesterolemia, Familial, 4Lind et al, 2004
603813.4.2Lebanon1PathogenicLind et al, 2004 Brother of 603813.4.1
603813.4.3Lebanon1PathogenicLind et al, 2004 Mother of 603813.4.1
603813.4.4Lebanon1PathogenicLind et al, 2004 Father of 603813.4.1
603813.5.1Syria2PathogenicHypercholesterolemia, Familial, 4Al-Kateb et al, 2002
603813.5.2Syria2PathogenicHypercholesterolemia, Familial, 4Al-Kateb et al, 2002
603813.5.3Syria2PathogenicHypercholesterolemia, Familial, 4Al-Kateb et al, 2002
603813.5.4Syria1PathogenicAl-Kateb et al, 2002 Mother of 603813.5.1
603813.5.5Syria1PathogenicAl-Kateb et al, 2002 Father of 603813.5.1
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