NM_016247.4:c.513T>G

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HGVS Expressions

  • NG_028284.1:g.34077T>G
  • NM_016247.4:c.513T>G
  • NP_057331.2:p.Tyr171Ter
  • NC_000003.12:g.101291499A>C

Associated Genes

Interphotoreceptor Matrix Proteoglycan 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

763295314

Clinvar

191181

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613581.7Saudi Arabia2PathogenicRetinitis Pigmentosa 56Patel et al. 2016
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Contributors

  • Sayeeda Hana: 19.08.2024

Edit History

  • Sayeeda Hana: 19.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.