NM_032119.4:c.5643del

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HGVS Expressions

  • NG_007083.2:g.157090del
  • NM_032119.4:c.5643del
  • NP_115495.3:p.Tyr1882fs

Associated Genes

Adhesion G Protein-Coupled Receptor V1
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Genomic Location

chr5:90681433

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

727503076

Clinvar

163578

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605472.1Lebanon2PathogenicUsher Syndrome, Type IICJalkh et al. 2019
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Contributors

  • Pratibha Nair: 09.11.2020

Edit History

  • Pratibha Nair: 09.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.