NM_000100.4:c.-210CCCCGCCCCGCG[(2_3)]

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HGVS Expressions

  • NG_011545.1:g.4900CCCCGCCCCGCG[(2_3)]
  • NM_000100.4:c.-210CCCCGCCCCGCG[(2_3)]
  • NC_000021.9:g.43776460_43776471[(2_3)]

Associated Genes

Cystatin B
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Microsatellite

Clinvar

8398

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
254800.1.1United Arab Emirates2PathogenicMyoclonic Epilepsy of Unverricht and LundborgSaadah et al. 2014
254800.1.2United Arab Emirates2PathogenicMyoclonic Epilepsy of Unverricht and LundborgSaadah et al. 2014 Sister of 254800.1.1
254800.1.3United Arab Emirates2PathogenicMyoclonic Epilepsy of Unverricht and LundborgSaadah et al. 2014 Sister of 254800.1.1
254800.1.4United Arab Emirates2PathogenicMyoclonic Epilepsy of Unverricht and LundborgSaadah et al. 2014 Brother of 254800.1.1
254800.1.5United Arab Emirates2PathogenicMyoclonic Epilepsy of Unverricht and LundborgSaadah et al. 2014 Brother of 254800.1.1
254800.1.6United Arab Emirates1Saadah et al. 2014 Father of 254800.1.1
254800.1.7United Arab Emirates1Saadah et al. 2014 Mother of 254800.1.1
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Contributors

  • Sayeeda Hana: 13.09.2021

Edit History

  • Sayeeda Hana: 14.09.2021
  • Sayeeda Hana: 13.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.