NM_000180.4:c.2563C>T

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HGVS Expressions

  • NG_009092.1:g.17082C>T
  • NM_000180.4:c.2563C>T
  • NP_000171.1:p.Gln855Ter
  • NC_000017.11:g.8014751C>T

Associated Genes

Guanylate Cyclase 2D, Membrane
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1555635778

Clinvar

497765

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601777.1.1Jordan2PathogenicCone-Rod Dystrophy 6Makrythanasis et al. 2014
601777.1.2Jordan2PathogenicCone-Rod Dystrophy 6Makrythanasis et al. 2014 Sister of 601777.1.1
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Contributors

  • Sayeeda Hana: 24.02.2022

Edit History

  • Sayeeda Hana: 24.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.