NM_017777.4:c.1126dup

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HGVS Expressions

  • NG_013032.1:g.16462dup
  • NM_017777.4:c.1126dup
  • NP_060247.2:p.Thr376AsnfsTer3
  • NC_000017.11:g.58208144dup

Associated Genes

MKS1 Gene
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

1252059

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
249000.5.1Saudi Arabia2PathogenicMeckel Syndrome, Type 1Shaheen et al. 2013
249000.10Saudi Arabia2NAPathogenicMeckel Syndrome, Type 1Maddirevula et al. 2018
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Contributors

  • Sayeeda Hana: 16.09.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Asha Deepthi: 02.02.2022
  • Sayeeda Hana: 16.09.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.