NM_001013703.4:c.560_564del

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  2. NM_001013703.4:c.560_564del

HGVS Expressions

  • NG_034053.1:g.24827_24831del
  • NM_001013703.4:c.560_564del
  • NP_001013725.2:p.Lys187fs

Associated Genes

Eukaryotic Translation Initiation Factor 2-Alpha Kinase 4
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Genomic Location

chr15:39953950-39953954

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

772487425

Clinvar

280131

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
234810.1.1Lebanon2PathogenicPulmonary Venoocclusive Disease 2, Autosomal RecessiveAbou Hassan et al, 2019
234810.1.2Lebanon2PathogenicPulmonary Venoocclusive Disease 2, Autosomal RecessiveAbou Hassan et al, 2019 Brother of 234810.1.1
234810.1.3Lebanon1Abou Hassan et al, 2019 Mother of 234810.1.1
234810.1.4Lebanon1Abou Hassan et al, 2019 Sister of 234810.1.1
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Contributors

  • Sayeeda Hana: 14.10.2020

Edit History

  • Sayeeda Hana: 14.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.