NM_206933.2:c.4033G>C

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  2. NM_206933.2:c.4033G>C

HGVS Expressions

  • NG_009497.1:g.230034G>C
  • NM_206933.2:c.4033G>C
  • NP_996816.2:p.Ala1345Pro

Associated Genes

USH2A gene
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Genomic Location

chr1:216198363

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

979016

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613809.G.2Saudi Arabia6PathogenicRetinitis Pigmentosa 39Patel et al, 2018 3 members of a family
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Contributors

  • Sayeeda Hana: 01.07.2020

Edit History

  • Pratibha Nair: 21.11.2022
  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 02.07.2020
  • Sayeeda Hana: 01.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.