NM_016648.4:c.503_504dup

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  2. NM_016648.4:c.503_504dup

HGVS Expressions

  • NG_032779.1:g.14943_14944dup
  • NM_016648.4:c.503_504dup
  • NP_057732.2:p.Ala169LeufsTer37
  • NC_000004.12:g.112646906_112646907dup

Associated Genes

La Ribonucleoprotein 7, Transcriptional Regulator
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

dbSNP

1554011296

Clinvar

523643

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615071.3.1Algeria2Likely PathogenicAlazami SyndromeImbert-Bouteille et al. 2019
615071.3.2Algeria2Likely PathogenicAlazami SyndromeImbert-Bouteille et al. 2019 Sibling of 615071.3.1
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Contributors

  • Pratibha Nair: 19.09.2022

Edit History

  • Pratibha Nair: 19.09.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.