NM_002420.6:c.2999G>A

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HGVS Expressions

  • NG_016453.2:g.135229G>A
  • NM_002420.6:c.2999G>A
  • NP_002411.3:p.Arg1000Gln
  • NC_000015.10:g.31031045C>T

Associated Genes

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

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

374787557

Clinvar

950187

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.