NM_133497.4:c.564G>C

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  2. NM_133497.4:c.564G>C

HGVS Expressions

  • NG_012181.1:g.5778G>C
  • NM_133497.4:c.564G>C
  • NP_598004.1:p.Trp188Cys
  • NC_000009.12:g.2718303G>C

Associated Genes

Potassium Channel, Voltage-Gated, Subfamily V, Member 2
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

772921412

Clinvar

1468960

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610356.G.2United Arab EmiratesPathogenicRetinal Cone Dystrophy 3BWu et al. 2006 Unknown number of members from an Emirat...
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Contributors

  • Sayeeda Hana: 24.10.2021

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 14.02.2022
  • Sayeeda Hana: 24.10.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.