NM_020366.3:c.2662C>T

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  2. NM_020366.3:c.2662C>T

HGVS Expressions

  • NG_008933.1:g.43149C>T
  • NM_020366.3:c.2662C>T
  • NP_065099.3:p.Arg888Ter

Associated Genes

Retinitis Pigmentosa GTPase Regulator-Interacting Protein
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Genomic Location

chr14:21326125

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1030149008

Clinvar

632211

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613826.4Saudi Arabia2PathogenicLeber Congenital Amaurosis 6Khan et al. 2013
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Contributors

  • Sayeeda Hana: 24.06.2020

Edit History

  • Sayeeda Hana: 25.06.2020
  • Sayeeda Hana: 24.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.