NM_001698.2:c.80delG

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  2. NM_001698.2:c.80delG

HGVS Expressions

  • NG_008017.1:g.5115delG
  • NM_001698.2:c.80delG
  • NP_001689.1:p.Ser27Metfs

Associated Genes

AU-Specific RNA-Binding Protein
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Genomic Location

Chr9:91361810

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

730880310

Clinvar

9058

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
250950.1Lebanon2Pathogenic3-Methylglutaconic Aciduria, Type ILy et al, 2003 Elevated C5-OH-carnitine in newborn scre...
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Contributors

  • Pratibha Nair: 09.10.2018

Edit History

  • Pratibha Nair: 16.01.2019
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© CAGS 2024. All rights reserved.