NM_020366.3:c.2236G>A

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  2. NM_020366.3:c.2236G>A

HGVS Expressions

  • NG_008933.1:g.42276G>A
  • NM_020366.3:c.2236G>A
  • NP_065099.3:p.Gly746Arg

Associated Genes

Retinitis Pigmentosa GTPase Regulator-Interacting Protein
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Genomic Location

chr14:21325252

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

535695411

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613826.2.1Saudi Arabia2PathogenicLeber Congenital Amaurosis 6Khan et al. 2013; Abu-Safieh et al, 2013
613826.2.2Saudi Arabia2PathogenicLeber Congenital Amaurosis 6Khan et al. 2013; Abu-Safieh et al, 2013 Sister of 613826.2.1
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Contributors

  • Sayeeda Hana: 24.06.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 24.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.