NM_006086.4:c.136C>T

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  2. NM_006086.4:c.136C>T

HGVS Expressions

  • NG_027810.1:g.15641C>T
  • NM_006086.4:c.136C>T
  • NP_006077.2:p.Arg46Trp
  • NC_000016.10:g.89932649C>T

Associated Genes

Tubulin, Beta-3
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1555625363

Clinvar

438582

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614039.1Jordan1Likely PathogenicCortical Dysplasia, Complex, with other Brain Malformations 1Froukh. 2017 de novo mutation
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Contributors

  • Pratibha Nair: 18.09.2023

Edit History

  • Pratibha Nair: 18.09.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.