NM_002292.4:c.4276dup

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HGVS Expressions

  • NG_008094.1:g.15166dup
  • NM_002292.4:c.4276dup
  • NP_002283.3:p.Ala1426GlyfsTer6
  • NC_000003.12:g.49123001dup

Associated Genes

Laminin, Beta-2
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

dbSNP

974892

Clinvar

974892

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609049.1Saudi Arabia2Likely PathogenicPierson SyndromeAnazi et al. 2017b; Patel et al. 2018 Parents are distantly related and from t...
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Contributors

  • Pratibha Nair: 26.09.2023

Edit History

  • Pratibha Nair: 26.09.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.