NM_017755.6:c.1478del

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HGVS Expressions

  • NG_028215.1:g.31131del
  • NM_017755.6:c.1478del
  • NP_060225.4:p.Asn493IlefsTer18
  • NC_000005.10:g.6607231del

Associated Genes

NOL1/NOP2/SUN Domain Family, Member 2
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611091.3Saudi Arabia2PathogenicMental Retardation, Autosomal Recessive 5Shaheen et al. 2019
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Contributors

  • Sayeeda Hana: 30.01.2022

Edit History

  • Rahila Mir: 07.02.2022
  • Sayeeda Hana: 30.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.