NM_001013703.4:c.1671A>G

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  2. NM_001013703.4:c.1671A>G

HGVS Expressions

  • NG_034053.1:g.44479A>G
  • NM_001013703.4:c.1671A>G
  • NP_001013725.2:p.Gly557=

Associated Genes

Eukaryotic Translation Initiation Factor 2-Alpha Kinase 4
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Genomic Location

chr15:39973602

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

779495491

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
234810.2.1Lebanon2PathogenicPulmonary Venoocclusive Disease 2, Autosomal RecessiveAbou Hassan et al, 2019 Index patient
234810.2.2Lebanon2PathogenicPulmonary Venoocclusive Disease 2, Autosomal RecessiveAbou Hassan et al, 2019 Brother of 234810.2.1
234810.2.3Lebanon1Abou Hassan et al, 2019 Daughter of 234810.2.1
234810.2.4Lebanon1Abou Hassan et al, 2019 Nephew of 234810.2.1, Son of 234810.2.2
234810.2.5Lebanon1Abou Hassan et al, 2019 Niece of 234810.2.1, Daughter of 234810....
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Contributors

  • Sayeeda Hana: 14.10.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 14.10.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.