NM_031296.3:c.136A>C

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HGVS Expressions

  • NG_051587.1:g.6100A>C
  • NM_031296.3:c.136A>C
  • NP_112586.1:p.Lys46Gln
  • NC_000004.12:g.139454331A>C

Associated Genes

Ras-Associated Protein RAB33B
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

587776958

Clinvar

50230

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615222.2Saudi Arabia2Likely PathogenicSmith-Mccort Dysplasia 2Monies et al. 2019
615222.1.GSaudi Arabia8NALikely PathogenicSmith-Mccort Dysplasia 2Maddirevula et al. 2018 Four related patients
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Contributors

  • Asha Deepthi: 11.02.2022

Edit History

  • Pratibha Nair: 21.11.2023
  • Asha Deepthi: 11.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.