NM_018319.4:c.1478A>G

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  2. NM_018319.4:c.1478A>G

HGVS Expressions

  • NG_009164.1:g.42519A>G
  • NM_018319.4:c.1478A>G
  • NP_060789.2:p.His493Arg
  • NC_000014.9:g.89993420A>G

Associated Genes

Tyrosyl-DNA Phosphodiesterase 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

119467003

Clinvar

3424

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607250.G.1Saudi Arabia18PathogenicSpinocerebellar Ataxia, Autosomal Recessive, with Axonal NeuropathyTakashima et al. 2002 Nine patients (five males; four females)...
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Contributors

  • Asha Deepthi: 22.03.2023

Edit History

  • Asha Deepthi: 22.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.