NM_006017.3:c.604C>G

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HGVS Expressions

  • NG_011696.2:g.63842C>G
  • NM_006017.3:c.604C>G
  • NP_006008.1:p.Arg202Gly
  • NC_000004.12:g.16025218G>C

Associated Genes

Prominin 1
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Clinvar Clinical Significance

Likely Benign, Likely Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

140872693

Clinvar

191189

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612095.2Saudi Arabia2PathogenicRetinitis Pigmentosa 41Patel et al. 2016
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Contributors

  • Sayeeda Hana: 15.08.2024

Edit History

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