NM_012193.4:c.762del

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  2. NM_012193.4:c.762del

HGVS Expressions

  • NG_011752.1:g.8398del
  • NM_012193.4:c.762del
  • NP_036325.2:p.Pro254fs

Associated Genes

Frizzled Class Receptor 4
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Genomic Location

chr11:86951994

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
133780.1Lebanon1Likely PathogenicExudative Vitreoretinopathy 1Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 13.12.2020

Edit History

  • Rahila Mir: 10.02.2022
  • Pratibha Nair: 13.12.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.