NM_002420.6:c.2782C>T

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HGVS Expressions

  • NG_016453.2:g.133481C>T
  • NM_002420.6:c.2782C>T
  • NP_002411.3:p.Arg928Trp
  • NC_000015.10:g.31032793G>A

Associated Genes

Transient Receptor Potential Cation Channel, Subfamily M, Member 1
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

727504182

Clinvar

167749

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613216.2United Arab Emirates1NALikely PathogenicNight Blindness, Congenital Stationary, Type 1CKhan. 2020; Alsalamah et al. 2020
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Contributors

  • Asha Deepthi: 03.06.2021

Edit History

  • Asha Deepthi: 03.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.