NM_001298.3:c.847C>T

  1. Home
  2. NM_001298.3:c.847C>T

HGVS Expressions

  • NG_009097.1:g.54863C>T
  • NM_001298.3:c.847C>T
  • NP_001289.1:p.Arg283Trp
  • NC_000002.12:g.98396017C>T

Associated Genes

Cyclic Nucleotide-Gated Channel, Alpha-3
Back to search Result
Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

104893613

Clinvar

9474

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
216900.1.1United Arab Emirates1PathogenicAchromatopsia 2Ahuja et al. 2008
216900.1.2United Arab Emirates1PathogenicAchromatopsia 2Ahuja et al. 2008 Brother of 216900.1.1
216900.2.1United Arab Emirates2PathogenicAchromatopsia 2Ahuja et al. 2008
216900.2.2United Arab Emirates2PathogenicAchromatopsia 2Ahuja et al. 2008 Brother of 216900.2.1
216900.5United Arab Emirates1Likely PathogenicAchromatopsia 2Khan. 2020
216900.6United Arab Emirates2Likely PathogenicAchromatopsia 2Khan. 2020
Download Table

Contributors

  • Sayeeda Hana: 11.06.2020

Edit History

  • Sami Bizzari: 21.12.2022
  • Asha Deepthi: 17.05.2021
  • Sayeeda Hana: 11.06.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.