NM_032119.4:c.1477C>T

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HGVS Expressions

  • NG_007083.2:g.104457C>T
  • NM_032119.4:c.1477C>T
  • NP_115495.3:p.Arg493Ter
  • NC_000005.10:g.90628800C>T

Associated Genes

Adhesion G Protein-Coupled Receptor V1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

779948710

Clinvar

1064951

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605472.4.1United Arab Emirates1Likely PathogenicUsher Syndrome, Type IICElsayed O and Al-Shamsi A. 2022 Potentially de novo. Healthy asymptomati...
605472.4.2United Arab Emirates1Likely PathogenicUsher Syndrome, Type IICElsayed O and Al-Shamsi A. 2022 Potentially de novo. Healthy asymptomati...
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Contributors

  • Sami Bizzari: 26.09.2023

Edit History

  • Sami Bizzari: 05.10.2023
  • Sami Bizzari: 26.09.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.