NM_015087.4:c.1324G>C

HGVS Expressions

  • NG_011559.2:g.60794T>C
  • NM_015087.4:c.1324G>C
  • NP_055902.1:p.Ala442Pro
  • NC_000013.11:g.36314386C>G

Associated Genes

Spartin
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
275900.1.1United Arab Emirates2Likely PathogenicSpastic Paraplegia 20, Autosomal RecessiveBizzari et al. 2017 Proband
275900.1.2United Arab Emirates2Likely PathogenicSpastic Paraplegia 20, Autosomal RecessiveBizzari et al. 2017 Sister of 275900.1.1
275900.1.3United Arab Emirates2Likely PathogenicSpastic Paraplegia 20, Autosomal RecessiveBizzari et al. 2017 Brother of 275900.1.1
275900.1.4United Arab Emirates2Likely PathogenicSpastic Paraplegia 20, Autosomal RecessiveBizzari et al. 2017 First cousin of 275900.1.1. Sha had a yo...
275900.1.5United Arab Emirates2Likely PathogenicSpastic Paraplegia 20, Autosomal RecessiveBizzari et al. 2017 First cousin of 275900.1.1. Sha had a yo...
275900.1.6United Arab Emirates1Bizzari et al. 2017 Father of 275900.1.1
275900.1.7United Arab Emirates1Bizzari et al. 2017 Mother of 275900.1.1
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