NM_145290.4:c.2504C>G

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  2. NM_145290.4:c.2504C>G

HGVS Expressions

  • NG_032963.1:g.128387C>G
  • NM_145290.4:c.2504C>G
  • NP_660333.2:p.Ser835Cys
  • NC_000004.12:g.22392668G>C

Associated Genes

Adhesion G Protein-Coupled Receptor A3
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

570300625

Clinvar

834484

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268000.1Saudi Arabia4+Likely PathogenicRetinitis PigmentosaPatel et al. 2016
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Contributors

  • Sayeeda Hana: 27.07.2024

Edit History

  • Sayeeda Hana: 27.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.