NM_001252020.1:c.1577T>A

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HGVS Expressions

  • NG_016453.2:g.116853T>A
  • NM_001252020.1:c.1577T>A
  • NP_001238949.1:p.Met526Lys

Associated Genes

Transient Receptor Potential Cation Channel, Subfamily M, Member 1
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Genomic Location

chr15:31049421

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

dbSNP

1342111186

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613216.G.1Saudi Arabia4Uncertain SignificanceNight Blindness, Congenital Stationary, Type 1CPatel et al, 2018 2 members of a family
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Contributors

  • Sayeeda Hana: 01.07.2020

Edit History

  • Rahila Mir: 22.02.2022
  • Sayeeda Hana: 08.01.2021
  • Sayeeda Hana: 01.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.