NM_001195263.2:c.918dup

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  2. NM_001195263.2:c.918dup

HGVS Expressions

  • NG_028030.1:g.15530dup
  • NM_001195263.2:c.918dup
  • NP_001182192.1:p.Leu307AlafsTer17
  • NC_000010.11:g.101020629dup

Associated Genes

PDZ Domain-Containing 7
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

2134074165

Clinvar

1455175

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613581.2.4United Arab Emirates2PathogenicUsher Syndrome, Type IICKhan and Al Teneiji. 2019; Khan. 2024 Sibling of 613581.2.1. This patient is a...
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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.