NM_032119.4:c.10054-2A>G

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HGVS Expressions

  • NG_007083.2:g.201204A>G
  • NM_032119.4:c.10054-2A>G
  • NP_115495.3:p.?
  • NC_000005.10:g.90725547A>G

Associated Genes

Adhesion G Protein-Coupled Receptor V1
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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
605472.5.1United Arab Emirates2Likely PathogenicUsher Syndrome, Type IICKhan. 2024 Patient from 'family 4' in the publicati...
605472.5.2United Arab Emirates2Likely PathogenicUsher Syndrome, Type IICKhan. 2024 Sister of 605472.5.1
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Contributors

  • Asha Deepthi: 21.08.2024

Edit History

  • Asha Deepthi: 21.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.