NM_033100.4:c.420T>A

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HGVS Expressions

  • NG_028034.1:g.9448T>A
  • NM_033100.4:c.420T>A
  • NP_149091.1:p.Tyr140*

Associated Genes

Cadherin-Related Family, Member 1
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Genomic Location

chr10:84199103

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
613660.1Lebanon2Likely PathogenicCone-Rod Dystrophy 15Nair et al. 2018
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Contributors

  • Pratibha Nair: 14.04.2020

Edit History

  • Rahila Mir: 09.02.2022
  • Pratibha Nair: 22.09.2021
  • Pratibha Nair: 14.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.