NM_020184.4:c.734C>T

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HGVS Expressions

  • NG_016608.1:g.5832C>T
  • NM_020184.4:c.734C>T
  • NP_064569.3:p.Ser245Leu
  • NC_000002.12:g.96761733C>T

Associated Genes

Cyclin M4
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

786205530

Clinvar

191119

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
204000.G.1Saudi Arabia4+Likely PathogenicLeber Congenital Amaurosis 1Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 05.08.2024

Edit History

  • Sayeeda Hana: 05.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.