NM_001376.5:c.10973G>A

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  2. NM_001376.5:c.10973G>A

HGVS Expressions

  • NG_008777.1:g.78997G>A
  • NM_001376.5:c.10973G>A
  • NP_001367.2:p.Gly3658Glu
  • NC_000014.9:g.102038524G>A

Associated Genes

Dynein, Cytoplasmic 1, Heavy Chain 1
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

1595629181

Clinvar

813289

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
614563.1United Arab Emirates1PathogenicMental Retardation, Autosomal Dominant 13Al-Shamsi et al. 2016
614563.2Syria1Likely PathogenicMental Retardation, Autosomal Dominant 13Hertecant et al. 2016 de novo mutation
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Contributors

  • Pratibha Nair: 16.07.2020

Edit History

  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 13.07.2022
  • Pratibha Nair: 16.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.