NM_002420.6:c.245_250delinsGTGAAAGAT

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HGVS Expressions

  • NG_016453.2:g.98213_98218delinsGTGAAAGAT
  • NM_002420.6:c.245_250delinsGTGAAAGAT
  • NP_002411.3:p.Asp82_Ser83delinsGlyGluArg
  • NC_000015.10:g.31068056_31068061delinsATCTTTCAC

Associated Genes

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

Likely Pathogenic

Variant Type

Indel

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613216.3United Arab Emirates2NALikely PathogenicNight Blindness, Congenital Stationary, Type 1CKhan. 2020; Alsalamah et al. 2020
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Contributors

  • Asha Deepthi: 03.06.2021

Edit History

  • Rahila Mir: 10.02.2022
  • Asha Deepthi: 03.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.