NM_006017.3:c.1142-1G>A

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HGVS Expressions

  • NG_011696.2:g.79951G>A
  • NM_006017.3:c.1142-1G>A
  • NP_006008.1:p.?
  • NC_000004.12:g.16009109C>T

Associated Genes

Prominin 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

752619497

Clinvar

809626

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608051.1Saudi Arabia1PathogenicMacular Dystrophy, Retinal, 2Monies et al. 2017
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Contributors

  • Asha Deepthi: 20.12.2024

Edit History

  • Asha Deepthi: 20.12.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.