NM_006204.4:c.939+5G>A

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  2. NM_006204.4:c.939+5G>A

HGVS Expressions

  • NG_016752.1:g.18067G>A
  • NM_006204.4:c.939+5G>A
  • NP_006195.3:p.?
  • NC_000010.11:g.93625654G>A

Associated Genes

Phosphodiesterase 6C, cGMP-Specific, Cone, Alpha-Prime
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

374805348

Clinvar

191010

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613093.G.1Saudi Arabia4+PathogenicCone Dystrophy 4Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 09.08.2024

Edit History

  • Sayeeda Hana: 09.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.