NM_030973.4:c.518T>C

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  2. NM_030973.4:c.518T>C

HGVS Expressions

  • NG_017091.1:g.15805T>C
  • NM_030973.4:c.518T>C
  • NP_112235.2:p.Ile173Thr

Associated Genes

Mediator Complex Subunit 25
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Genomic Location

chr19:49829083

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

781753774

Clinvar

932436

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616449.1.1Lebanon2NAPathogenicBasel-Vanagait-Smirin-Yosef Syndrome Nair et al, 2019 Proband
616449.1.2Lebanon2NAPathogenicBasel-Vanagait-Smirin-Yosef Syndrome Nair et al, 2019 Sister of proband
616449.2Lebanon2Likely PathogenicBasel-Vanagait-Smirin-Yosef Syndrome Nair et al. 2019
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Contributors

  • Asha Deepthi: 04.11.2020

Edit History

  • Sami Bizzari: 08.06.2021
  • Pratibha Nair: 17.01.2021
  • Asha Deepthi: 04.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.