NM_000554.6:c.274G>A

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  2. NM_000554.6:c.274G>A

HGVS Expressions

  • NG_008605.1:g.22500G>A
  • NM_000554.6:c.274G>A
  • NP_000545.1:p.Ala92Thr
  • NC_000019.10:g.47839341G>A

Associated Genes

Cone-Rod Homeobox-Containing Gene
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Clinvar Clinical Significance

Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

786205521

Clinvar

191106

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268000.G.3Saudi Arabia2+PathogenicRetinitis PigmentosaPatel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 29.07.2024

Edit History

  • Sayeeda Hana: 02.08.2024
  • Sayeeda Hana: 29.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.