NM_170784.3:c.295T>C

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HGVS Expressions

  • NG_009109.3:g.26002T>C
  • NM_170784.3:c.295T>C
  • NP_740754.1:p.Cys99Arg
  • NC_000020.11:g.10413220A>G

Associated Genes

MKKS Gene
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1297985227

Clinvar

585166

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
268000.4Saudi Arabia2Likely PathogenicRetinitis PigmentosaPatel et al. 2016
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Contributors

  • Sayeeda Hana: 12.08.2024

Edit History

  • Sayeeda Hana: 12.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.