NM_016824.5:c.1100G>A

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  2. NM_016824.5:c.1100G>A

HGVS Expressions

  • NG_051033.1:g.130900G>A
  • NM_016824.5:c.1100G>A
  • NP_058432.1:p.Gly367Asp
  • NC_000010.11:g.110122249G>A

Associated Genes

Adducin 3
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

564185858

Clinvar

242273

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617008.1United Arab Emirates2PathogenicCerebral Palsy, Spastic Quadriplegic 3Al-Shamsi et al. 2016
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Contributors

  • Pratibha Nair: 27.07.2020

Edit History

  • Pratibha Nair: 12.01.2023
  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 27.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.