NM_033380.2:c.4214dup

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HGVS Expressions

  • NG_011977.1:g.246963dup
  • NM_033380.2:c.4214dup
  • NP_203699.1:p.Gly1406Argfs

Associated Genes

Collagen, Type IV, Alpha-5
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Genomic Location

ChrX:108681886

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

dbSNP

104886409

Clinvar

24713

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
301050.1Lebanon1PathogenicAlport Syndrome, X-LinkedErmisch et al, 2000
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Contributors

  • Pratibha Nair: 16.01.2019

Edit History

  • Sayeeda Hana: 26.09.2020
  • Pratibha Nair: 16.01.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.