NM_015627.2:c.605C>A

HGVS Expressions

  • NG_008932.1:g.24558C>A
  • NM_015627.2:c.605C>A
  • NP_056442.2:p.Ser202Tyr
  • NC_000001.11:g.25563142C>A
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Clinvar Clinical Significance

Benign, Likely Benign, Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

4776

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
603813.2.1Lebanon2PathogenicHypercholesterolemia, Familial, 4Garcia et al, 2001
603813.2.2Lebanon2PathogenicHypercholesterolemia, Familial, 4Garcia et al, 2001 Sibling of 603813.2.1
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