NM_000092.4:c.1802delC

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HGVS Expressions

  • NG_011592.1:g.89116delC
  • NM_000092.4:c.1802delC
  • NP_000083.3:p.Pro601Glnfs

Associated Genes

Collagen, Type IV, Alpha-4
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Genomic Location

chr2:227080444

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
203780.1Lebanon2PathogenicAlport Syndrome 2, Autosomal RecessiveNair et al. 2018
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Contributors

  • Pratibha Nair: 19.04.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 19.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.