NM_201253.3:c.1180T>C

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  2. NM_201253.3:c.1180T>C

HGVS Expressions

  • NG_008483.3:g.224506T>C
  • NM_201253.3:c.1180T>C
  • NP_957705.1:p.Cys394Arg
  • NC_000001.11:g.197421008T>C

Associated Genes

Crumbs, Drosophila, Homolog of, 1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

786205450

Clinvar

190990

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600105.G.6Saudi Arabia4+PathogenicRetinitis Pigmentosa 12Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 25.07.2024

Edit History

  • Sayeeda Hana: 25.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.