NM_133497.4:c.325C>T

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HGVS Expressions

  • NG_012181.1:g.5539C>T
  • NM_133497.4:c.325C>T
  • NP_598004.1:p.Gln109Ter
  • NC_000009.12:g.2718064C>T

Associated Genes

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

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1478587308

Clinvar

1452213

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610356.1United Arab Emirates2Likely PathogenicRetinal Cone Dystrophy 3BKhan. 2020; Georgiou et al. 2021
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Contributors

  • Asha Deepthi: 24.05.2021

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 10.02.2022
  • Asha Deepthi: 24.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.