NM_017825.3:c.1000C>T

HGVS Expressions

  • NM_017825.3:c.1000C>T
  • NP_060295.1:p.Gln334Ter
  • NC_000001.11:g.36093294C>T
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Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

590298

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
618170.1.1United Arab Emirates2PathogenicNeurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and SeizuresGhosh et al. 2018 Patient from 'family 1' in the publication
618170.1.2United Arab Emirates2PathogenicNeurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and SeizuresGhosh et al. 2018 Sister of 618170.1.1
618170.1.3United Arab Emirates2PathogenicNeurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and SeizuresGhosh et al. 2018 Brother of 618170.1.1
618170.1.4United Arab Emirates2PathogenicNeurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and SeizuresGhosh et al. 2018 Brother of 618170.1.1
618170.1.5United Arab Emirates2PathogenicNeurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and SeizuresGhosh et al. 2018 Brother of 618170.1.1
618170.1.6United Arab Emirates2PathogenicNeurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and SeizuresGhosh et al. 2018 Cousin of 618170.1.1
618170.1.7United Arab Emirates2PathogenicNeurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and SeizuresGhosh et al. 2018 Cousin of 618170.1.1
618170.1.8United Arab Emirates2PathogenicNeurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and SeizuresGhosh et al. 2018 Cousin of 618170.1.1
618170.1.9United Arab Emirates2PathogenicNeurodegeneration, Childhood-Onset, Stress-Induced, with Variable Ataxia and SeizuresGhosh et al. 2018 Cousin of 618170.1.1
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