NM_001164730.2:c.324+1_324+7delinsAC

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  2. NM_001164730.2:c.324+1_324+7delinsAC

HGVS Expressions

  • NG_013037.1:g.88391_88397delinsAC
  • NM_001164730.2:c.324+1_324+7delinsAC

Associated Genes

Receptor Expression-Enhancing Protein 1
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Genomic Location

chr2:86254687-86254693

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Indel

dbSNP

869320621

Clinvar

217864

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604320.4.1Lebanon2Likely PathogenicSpinal Muscular Atrophy, Distal, Autosomal Recessive, 1Schottmann et al. 2015
604320.4.2Lebanon1Likely PathogenicSchottmann et al. 2015 Father of 604320.4.1
604320.4.3Lebanon1Likely PathogenicSchottmann et al. 2015 Mother of 604320.4.1
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Contributors

  • Pratibha Nair: 16.08.2020

Edit History

  • Sayeeda Hana: 05.10.2020
  • Pratibha Nair: 16.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.