NM_004933.3:c.2324G>A

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HGVS Expressions

  • NG_012055.1:g.28280G>A
  • NM_004933.3:c.2324G>A
  • NP_004924.1:p.Arg775Gln
  • NC_000016.10:g.89195034G>A

Associated Genes

Cadherin 15
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Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

201368808

Clinvar

377635

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
135900.3.1United Arab Emirates1Likely BenignBen-Salem et al. 2016 Baluchi origin Emirati national
135900.3.2United Arab Emirates1Likely BenignBen-Salem et al. 2016 Brother of 135900.3.1
135900.3.3United Arab Emirates1Likely BenignBen-Salem et al. 2016 Brother of 135900.3.1
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Contributors

  • Sayeeda Hana: 12.09.2021

Edit History

  • Sayeeda Hana: 12.09.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.