NM_207391.3:c.330_342del

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  2. NM_207391.3:c.330_342del

HGVS Expressions

  • NG_016751.1:g.6187_6199del
  • NM_207391.3:c.330_342del
  • NP_997274.2:p.Pro111GlnfsTer15
  • NC_000019.10:g.32676593_32676605del

Associated Genes

Regulator of G Protein Signaling 9-Binding Protein
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

1968006085

Clinvar

3065332

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
120970.G.1Saudi Arabia4+PathogenicCone-Rod Dystrophy 2Patel et al. 2016 Family with unknown number of affected m...
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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.