NM_020184.3:c.509T>C

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HGVS Expressions

  • NG_016608.1:g.5607T>C
  • NM_020184.3:c.509T>C
  • NP_064569.3:p.Leu170Pro
  • NC_000002.12:g.96761508T>C

Associated Genes

Cyclin M4
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
217080.3United Arab Emirates2Likely PathogenicJalili SyndromeKhan. 2020
217080.G.3Qatar4Likely PathogenicJalili SyndromePatel et al, 2018 2 members of a family
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Contributors

  • Sayeeda Hana: 07.07.2020

Edit History

  • Rahila Mir: 10.02.2022
  • Asha Deepthi: 18.05.2021
  • Sayeeda Hana: 07.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.