NM_001308093.3:c.1132A>G

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  2. NM_001308093.3:c.1132A>G

HGVS Expressions

  • NG_008177.2:g.85148A>G
  • NM_001308093.3:c.1132A>G
  • NP_001295022.1:p.Ser378Gly

Associated Genes

GATA-Binding Protein 4
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Genomic Location

chr8:11757066

Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

3729856

Clinvar

44334

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614429.1Lebanon1Likely PathogenicVentricular Septal Defect 1Fardoun et al. 2019
614429.2Lebanon1Likely PathogenicVentricular Septal Defect 1Fardoun et al. 2019
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Contributors

  • Pratibha Nair: 14.10.2020

Edit History

  • Pratibha Nair: 14.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.