NM_000554.6:c.425A>G

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  2. NM_000554.6:c.425A>G

HGVS Expressions

  • NG_008605.1:g.22651A>G
  • NM_000554.6:c.425A>G
  • NP_000545.1:p.Tyr142Cys
  • NC_000019.10:g.47839492A>G

Associated Genes

Cone-Rod Homeobox-Containing Gene
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Clinvar Clinical Significance

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

61748442

Clinvar

99605

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268000.6Saudi Arabia1Likely PathogenicRetinitis PigmentosaPatel et al. 2016
268000.8Saudi Arabia1Likely PathogenicRetinitis PigmentosaPatel et al. 2016
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Contributors

  • Sayeeda Hana: 14.08.2024

Edit History

  • Sayeeda Hana: 15.08.2024
  • Sayeeda Hana: 14.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.