NM_001378454.1:c.764G>A

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  2. NM_001378454.1:c.764G>A

HGVS Expressions

  • NG_011690.1:g.42220G>A
  • NM_001378454.1:c.764G>A
  • NP_001365383.1:p.Arg255Lys
  • NC_000002.12:g.73422974G>A

Associated Genes

ALMS1 Centrosome and Basal Body Associated Protein
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

786205526

Clinvar

191112

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
120970.G.2Saudi Arabia4+Likely PathogenicCone-Rod Dystrophy 2Patel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 13.08.2024

Edit History

  • Sayeeda Hana: 09.09.2024
  • Sayeeda Hana: 13.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.