NM_001378454.1:c.2726C>G

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  2. NM_001378454.1:c.2726C>G

HGVS Expressions

  • NG_011690.1:g.68501C>G
  • NM_001378454.1:c.2726C>G
  • NP_001365383.1:p.Ser909Ter
  • NC_000002.12:g.73449253C>G

Associated Genes

ALMS1 Centrosome and Basal Body Associated Protein
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

746640196

Clinvar

191113

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
203800.G.2Saudi Arabia4+PathogenicAlstrom SyndromePatel et al. 2016 Family with unknown number of affected m...
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Contributors

  • Sayeeda Hana: 09.08.2024

Edit History

  • Sayeeda Hana: 09.08.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.