NM_021076.4:c.1054C>T

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  2. NM_021076.4:c.1054C>T

HGVS Expressions

  • NG_008404.1:g.8354C>T
  • NM_021076.4:c.1054C>T
  • NP_066554.2:p.Arg352Cys
  • NC_000022.11:g.29483545C>T

Associated Genes

Neurofilament Protein, Heavy Polypeptide
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Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

149955255

Clinvar

1013206

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
105400.2Lebanon1Likely PathogenicAmyotrophic Lateral Sclerosis 1Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 08.11.2020

Edit History

  • Sami Bizzari: 08.06.2021
  • Sami Bizzari: 01.06.2021
  • Pratibha Nair: 08.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.