NM_015627.2:c.605C>A

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  2. 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

Associated Genes

Low Density Lipoprotein Receptor Adaptor Protein 1
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Clinvar Clinical Significance

Benign, Likely Benign, Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121908326

Clinvar

4776

Epidemiology in the Arab World

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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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Contributors

  • Pratibha Nair: 24.07.2019

Edit History

  • Pratibha Nair: 22.11.2022
  • Pratibha Nair: 08.09.2022
  • Pratibha Nair: 04.05.2020
  • Pratibha Nair: 24.07.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.